AnatomyDiseasesChemicals and Drugs
AbetalipoproteinemiaAcanthocytesApolipoproteins BHypobetalipoproteinemiasHypolipoproteinemiasApolipoproteinsLipoproteins, HDLLipoproteinsLipoproteins, LDLCarrier ProteinsLipoproteins, VLDL
Abetalipoproteinemia
An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
Acanthocytes
Erythrocytes with protoplasmic projections giving the cell a thorny appearance.
Apolipoproteins B
Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA.
Hypobetalipoproteinemias
Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.
Hypolipoproteinemias
Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins).
Apolipoproteins
Protein components on the surface of LIPOPROTEINS. They form a layer surrounding the hydrophobic lipid core. There are several classes of apolipoproteins with each playing a different role in lipid transport and LIPID METABOLISM. These proteins are synthesized mainly in the LIVER and the INTESTINES.
Lipoproteins, HDL
A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases.
Lipoproteins
Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.
Lipoproteins, LDL
A class of lipoproteins of small size (18-25 nm) and light (1.019-1.063 g/ml) particles with a core composed mainly of CHOLESTEROL ESTERS and smaller amounts of TRIGLYCERIDES. The surface monolayer consists mostly of PHOSPHOLIPIDS, a single copy of APOLIPOPROTEIN B-100, and free cholesterol molecules. The main LDL function is to transport cholesterol and cholesterol esters to extrahepatic tissues.
Carrier Proteins
Transport proteins that carry specific substances in the blood or across cell membranes.
Lipoproteins, VLDL
A class of lipoproteins of very light (0.93-1.006 g/ml) large size (30-80 nm) particles with a core composed mainly of TRIGLYCERIDES and a surface monolayer of PHOSPHOLIPIDS and CHOLESTEROL into which are imbedded the apolipoproteins B, E, and C. VLDL facilitates the transport of endogenously made triglycerides to extrahepatic tissues. As triglycerides and Apo C are removed, VLDL is converted to INTERMEDIATE-DENSITY LIPOPROTEINS, then to LOW-DENSITY LIPOPROTEINS from which cholesterol is delivered to the extrahepatic tissues.

Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse. (1/80)

Conventional knockout of the microsomal triglyceride transfer protein large subunit (lMTP) gene is embryonic lethal in the homozygous state in mice. We have produced a conditional lMTP knockout mouse by inserting loxP sequences flanking exons 5 and 6 by gene targeting. Homozygous floxed mice were born live with normal plasma lipids. Intravenous injection of an adenovirus harboring Cre recombinase (AdCre1) produced deletion of exons 5 and 6 and disappearance of lMTP mRNA and immunoreactive protein in a liver-specific manner. There was also disappearance of plasma apolipoprotein (apo) B-100 and marked reduction in apoB-48 levels. Wild-type mice showed no response, and heterozygous mice, an intermediate response, to AdCre1. Wild-type mice doubled their plasma cholesterol level following a high cholesterol diet. This hypercholesterolemia was abolished in AdCre1-treated lMTP-/- mice, the result of a complete absence of very low/intermediate/low density lipoproteins and a slight reduction in high density lipoprotein. Heterozygous mice showed an intermediate lipoprotein phenotype. The rate of accumulation of plasma triglyceride following Triton WR1339 treatment in lMTP-/- mice was <10% that in wild-type animals, indicating a failure of triglyceride-rich lipoprotein production. Pulse-chase experiments using hepatocytes isolated from wild-type and lMTP-/- mice revealed a failure of apoB secretion in lMTP-/- animals. Therefore, the liver-specific inactivation of the lMTP gene completely abrogates apoB-100 and very low/intermediate/low density lipoprotein production. These conditional knockout mice are a useful in vivo model for studying the role of MTP in apoB biosynthesis and the biogenesis of apoB-containing lipoproteins.  (+info)

Abetalipoproteinaemia. A case report with pathological studies. (2/80)

The clinical and pathological features of a case of abetalipoproteinaemia in a 38-year-old patient are described in detail. A feature not previously recorded was a marked reduction in the velocity of ocular horizontal saccadic movements. Pathological studies revealed an active chronic demyelinating process. The patient showed no response to large doses of vitamin E. The rationale for this therapy, and the possible reasons for its failure are discussed.  (+info)

Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. (3/80)

Uniparental disomy (UPD), a rare inheritance of 2 copies of a single chromosome homolog or a region of a chromosome from one parent, can result in various autosomal recessive diseases. Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency. In this study, we describe a patient with ABL inherited as a homozygous intron 9 splice acceptor G(-1)-to-A mutation of the transfer protein gene. This mutation alters the splicing of the mRNA, resulting in a 36 amino acids, in-frame deletion of sequence encoded by exon 10. We analyzed chromosome 4, including MTP gene (4q22-24), using short tandem repeat markers. The proband has only his mother's genes in chromosome 4q spanning a 150-centimorgan region; ie, segmental maternal isodisomy 4q21-35, probably due to mitotic recombination. Nonpaternity between the proband and his father was excluded using 6 polymorphic markers from different chromosomes (paternity probability, 0.999). Maternal isodisomy (maternal UPD 4q) was the basis for homozygosity of the MTP gene mutation in this patient.  (+info)

Progress towards understanding the role of microsomal triglyceride transfer protein in apolipoprotein-B lipoprotein assembly. (4/80)

The microsomal triglyceride transfer protein (MTP) is necessary for the proper assembly of the apolipoprotein B containing lipoproteins, very low density lipoprotein and chylomicrons. Recent research has significantly advanced our understanding of the role of MTP in these pathways at the molecular and cellular level. Biochemical studies suggest that initiation of lipidation of the nascent apolipoprotein B polypeptide may occur through a direct association with MTP. This early lipidation may be required to allow the nascent polypeptide to fold properly and therefore avoid ubiquitination and degradation. Concerning the addition of core neutral lipids in the later stages of lipoprotein assembly, cell culture studies show that MTP lipid transfer activity is not required for this to occur for apolipoprotein B-100 containing lipoproteins. Likewise, MTP does not appear to directly mediate addition of core neutral lipid to nascent apoB-48 particles. However, new data indicate that MTP is required to produce triglyceride rich droplets in the smooth endoplasmic reticulum which may supply the core lipids for conversion of nascent, dense apoB-48 particles to mature VLDL. In addition, assembly of dense apolipoprotein B-48 containing lipoproteins has been observed in mouse liver in the absence of MTP. As a result of these new data, an updated model for the role of MTP in lipoprotein assembly is proposed.  (+info)

Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. (5/80)

Abetalipoproteinemia (ABL) is an inherited disease characterized by the virtual absence of apolipoprotein B (apoB)-containing lipoproteins from plasma. Only limited numbers of families have been screened for mutations in the microsomal triglyceride transfer protein (MTP) gene. To clarify the genetic basis of clinical diversity of ABL, mutations of the MTP gene have been screened in 4 unrelated patients with ABL. Three novel mutations have been identified: a frameshift mutation caused by a single adenine deletion at position 1389 of the cDNA, and a missense mutation, Asn780Tyr, each in homozygous forms; and a splice site mutation, 2218-2A-->G, in a compound heterozygous form. The frameshift and splice site mutations are predicted to encode truncated forms of MTP. When transiently expressed in Cos-1 cells, the Asn780Tyr mutant MTP bound protein disulfide isomerase (PDI) but displayed negligible MTP activity. It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable. These results indicated that defects of the MTP gene are the proximal cause of ABL.  (+info)

Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients. (6/80)

Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a substitution of glutamine for arginine at residue 3500 of the apolipoprotein B-100 molecule. We have identified 23 heterozygotes and one homozygote for FDB (frequency 1:20) in a group of 510 patients with hypercholesterolemia. Mean age of the patients (18 females and 6 males) was 46 years. The diagnosis of FDB was based on point mutation PCR analysis of exon 26 of the apo B gene. Plasma lipids in heterozygous patients were: total cholesterol 8.76+/-1.2 mmol/l, triglycerides 1.42+/-0.5 mmol/l, HDL-cholesterol 1.43+/-0.3 mmol/l, LDL-cholesterol 6.69+/-1.2 mmol/l, apoB 1.69+/-0.4 g/l, Lp(a) 0.26+/-0.2 g/l. The most frequent apoE genotype was 3/3 (19 patients), apoE 3/4 genotype was found in 3 patients and one person had apoE 2/3. Xanthelasma palpebrarum was present in 4 patients and tendon xanthomas in 3 patients including the homozygote. Premature manifestation of coronary heart disease was revealed in 3 patients. Sixteen patients were treated with statins, a combination of statin and resin was used in 2 patients (including the homozygote), whereas six patients were treated with the diet only. We conclude that although the plasma lipid levels of total and LDL cholesterol in FDB patients are lower than in patients with familial hypercholesterolemia, the patients with FDB suffer from premature atherosclerosis. The therapeutic approach to FDB individuals and patients with familial hypercholesterolemia is very similar.  (+info)

A study of the abnormal lipoproteins in abetalipoproteinemia. (7/80)

The serum lipoproteins of five patients with abetalipoproteinemia (ABL) were separated by ultracentrifugation and then analyzed either intact or after delipidation. In accord with previous findings, all of the patients lacked serum particles with the characteristics of normal low-density lipoproteins (LDL) and of the LDL apoprotein as assessed by immunochemical methods. Each patient exhibited on every examination an abnormal particle, "LDL", which had the flotational properties of LDL, the polypeptide makeup of high-density lipoproteins HDL, the spectral and morphological characteristics of neither LDL nor HDL, and a relatively low content of cholesteryl esters. The HDL were abnormal in having a marked decrease in their total plasma content, an altered proportion of the subclasses HDL2 and HDL3, and a peculiar polypeptide distribution, comprising both normal and additional components, usually not seen in normal controls. The patients also exhibited a decrease of plasma lecithin-cholesterol acyl transferase (LCAT) activity which probably accounted for the low content of cholesteryl esters in both "LDL" and HDL, and in turn for the unusual appearance of "LDL" on electron microscopy. It is concluded that ABL is a disorder affecting all serum lipoprotein classes. Whether the abetalipoproteinemia previously described and noted in the current studies is related to or independent of the abnormalities observed in the other lipoproteins was not established. How the deficiency of LCAT activity, observed in all patients studied, contributed to some of the observed structural lipoprotein abnormalities also remained undetermined.  (+info)

Measurement of human high density lipoprotein apolipoprotein A-1 in serum by radioimmunoassay. (8/80)

A sensitive and specific double antibody radioimmunoassay for the major apolipoprotein (apo A-I) of human serum high density lipoprotein (HDL) was developed. Initial studies indicated that direct measurements of apo A-I concentration in whole untreated sera or isolated high density lipoprotein fractions yielded variable results, which were lower than those obtained in the corresponding samples which had been subjected to delipidation. Subsequently, it was observed that heating diluted sera or HDL for 3 hr at 52 degrees C prior to assay resulted in maximal increases in apo A-I immunoreactivity to levels comparable to those found in the delipidated specimens. This simple procedure permitted multiple sera to be assayed efficiently with full recovery of apo A-I.  (+info)

Abetalipoproteinemia - definition of abetalipoproteinemia by The Free DictionaryAbetalipoproteinemia - definition of abetalipoproteinemia by The Free Dictionary
Define abetalipoproteinemia. abetalipoproteinemia synonyms, abetalipoproteinemia pronunciation, abetalipoproteinemia translation, English dictionary definition of abetalipoproteinemia. Noun 1. abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood...
https://www.thefreedictionary.com/abetalipoproteinemia
Abetalipoproteinemia: descrizione di un caso.<...
TY - JOUR. T1 - Abetalipoproteinemia. T2 - descrizione di un caso.. AU - Guariso, G.. AU - Chiarelli, M. S.. AU - Nichetti, C.. AU - Montesco, M. C.. AU - Zancan, L.. PY - 1993/11. Y1 - 1993/11. N2 - The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons. Their absence compromises the transport of absorbed fats out of the enterocytes into the lymphatic system and the general circulation. Clinical features include steatorrhea, retarded growth, acanthocytosis of erythrocytes, retinitis pigmentosa and a chronic progressive neurological disorder with ataxia. We describe here the case of a 3 year old girl.. AB - The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons. Their absence compromises the transport of absorbed fats out of the enterocytes into the lymphatic system and the general circulation. Clinical features include steatorrhea, retarded growth, acanthocytosis of erythrocytes, ...
https://moh-it.pure.elsevier.com/en/publications/abetalipoproteinemia-case-report
Abetalipoproteinemia Treatment, Treatment for Abetalipoproteinemia in Fortis Hospital Kalyan West, Mumbai - View Doctors, Book...Abetalipoproteinemia Treatment, Treatment for Abetalipoproteinemia in Fortis Hospital Kalyan West, Mumbai - View Doctors, Book...
Treatment for Abetalipoproteinemia in Fortis Hospital Kalyan West, Mumbai. Find Doctors Near You, Book Appointment, Consult Online, View Doctor Fees, Address, Phone Numbers and Reviews. Doctors for Abetalipoproteinemia in Fortis Hospital Kalyan West, Mumbai | Lybrate
https://www.lybrate.com/mumbai/treatment-for-abetalipoproteinemia/fortis-hospital-kalyan-west-mumbai
Abetalipoproteinemia Treatment, Abetalipoproteinemia Cure in Yio Chu Kang, Singapore - View Doctors, Book Appointment Online |...Abetalipoproteinemia Treatment, Abetalipoproteinemia Cure in Yio Chu Kang, Singapore - View Doctors, Book Appointment Online |...
Treatment for abetalipoproteinemia in Yio Chu Kang, Singapore, find doctors near you. Book Appointment Online, View Fees, Reviews Doctors for Abetalipoproteinemia Treatment in Yio Chu Kang, Singapore | Practo
https://www.practo.com/singapore/treatment-for-abetalipoproteinemia/yio-chu-kang
Abetalipoproteinemia Treatment, Abetalipoproteinemia Cure in Anson, Singapore - View Doctors, Book Appointment Online | PractoAbetalipoproteinemia Treatment, Abetalipoproteinemia Cure in Anson, Singapore - View Doctors, Book Appointment Online | Practo
Treatment for abetalipoproteinemia in Anson, Singapore, find doctors near you. Book Appointment Online, View Fees, Reviews Doctors for Abetalipoproteinemia Treatment in Anson, Singapore | Practo
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Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemiaMicrosomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia
Abetalipoproteinemia (ABL) is an extremely rare autosomal recessive disorder, which is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins. ABL results from mutations in the gene encoding the microsomal triglyceride transfer protein (MTP). We se …
https://pubmed.ncbi.nlm.nih.gov/10679949/?dopt=Abstract
Abetalipoproteinemia - WikipediaAbetalipoproteinemia - Wikipedia
Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia. It is a rare autosomal recessive disorder. Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear en masse, meaning that they happen all together, all the time. These symptoms come as follows: Failure to thrive/Failure to grow in infancy Steatorrhea/Fatty, pale stools Frothy stools Foul smelling stools Protruding abdomen Intellectual disability/developmental delay Developmental coordination disorder, evident by age ten Muscle weakness Slurred speech Scoliosis (curvature of the spine) Progressive decreased vision ...
https://en.wikipedia.org/wiki/Abetalipoproteinemia
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the...
Naganawa S, Kodama T, Aburatani H, Matsumoto A, Itakura H, Takashima Y, Kawamura M, Muto Y. Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. Biochem Biophys Res Commun. 1992 Jan 15;182(1):99-104. ...
http://www.lsbm.org/en/?publication=genetic-analysis-of-a-japanese-family-with-normotriglyceridemic-abetalipoproteinemia-indicates-a-lack-of-linkage-to-the-apolipoprotein-b-gene
DMOZ - Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Metabolic: Abetalipoproteinemia
Also known as Bassen-Kornzweig syndrome, acanthocytosis, or apolipoprotein B deficiency. A disorder of lipid metabolism characterized by fat malabsorption, acanthocytosis, retinopathy, and progressive neurologic disease.
http://dmoztools.net/Health/Conditions_and_Diseases/Neurological_Disorders/Brain_Diseases/Metabolic/Abetalipoproteinemia/
Bassen-Kornzweig syndrome | RefTopiaBassen-Kornzweig syndrome | RefTopia
This is a definition for Bassen-Kornzweig syndrome. Reftopia is a quick, simple, and easy to use online English language dictionary.
http://www.reftopia.com/dictionary/Bassen-Kornzweig%20syndrome
Download Clinical Lipidology: A Companion to Braunwalds Heart by Christie M. Ballantyne MD PDF - wanderlust Books
Science 1988;241:591-593. 41. Linton MF, Pierotti V, Young SG: Reading-frame restoration with an apolipoprotein B gene frameshift mutation. Proc Natl Acad Sci USA 1992;89:11431-11435. 42. Wetterau JR, Aggerbeck LP, Bouma M-E, et al: Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992;258:999-1001. 43. Ross RS, Gregg RE, Law SW, et al: Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproteinemia at the molecular level. J Clin Invest 1988;81:590-595. Am J Physiol Gastrointest Liver Physiol 2007;292:G53-65. Farese RV, Veniant MM, Cham CM, et al: Phenotypic analysis of mice expressing exclusively apolipoprotein B48 or apolipoprotein B100. Proc Natl Acad Sci USA 1996;93:6393-6398. Veniant MM, Pierotti V, Newland D, et al: Susceptibility to atherosclerosis in mice expressing exclusively apolipoprotein B48 or apolipoprotein B100. J Clin Invest 1997;100:180-188. Yu Q, Chen D, Konig R, et al: APOBEC3B and APOBEC3C are potent ...
http://blog.cristafreeman.com/index.php/library/clinical-lipidology-a-companion-to-braunwalds-heart-disease
Abetalipoproteinemia | Harvard Catalyst Profiles | Harvard CatalystAbetalipoproteinemia | Harvard Catalyst Profiles | Harvard Catalyst
An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL ...
https://connects.catalyst.harvard.edu/Profiles/display/Concept/Abetalipoproteinemia
Microsomal triglyceride transfer protein - WikipediaMicrosomal triglyceride transfer protein - Wikipedia
Microsomal triglyceride transfer protein large subunit is a protein that in humans is encoded by the MTTP gene. MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triaglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL, IDL, and VLDL are important for MTP binding. Click on genes, proteins and metabolites below to link to respective articles. [[File: [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] ,px,alt=Statin Pathway edit]] The interactive pathway map can be edited at ...
https://en.wikipedia.org/wiki/Microsomal_triglyceride_transfer_protein
Microsomal triglyceride transfer protein - wikidocMicrosomal triglyceride transfer protein - wikidoc
Microsomal triglyceride transfer protein large subunit is a protein that in humans is encoded by the MTTP gene.[1][2] MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triaglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia.[2] Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL, IDL, and VLDL are important for MTP binding. ...
https://www.wikidoc.org/index.php/Microsomal_triglyceride_transfer_protein
Small bowel (small intestine) - AbetalipoproteinemiaSmall bowel (small intestine) - Abetalipoproteinemia
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
http://www.pathologyoutlines.com/topic/smallbowelabetalipoprotein.html
Low-density lipoproteins and adrenal cortisol production: studies in abetalipoproteinaemia and hypobetalipoproteinaemia |...Low-density lipoproteins and adrenal cortisol production: studies in abetalipoproteinaemia and hypobetalipoproteinaemia |...
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Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. | Journal of Medical GeneticsCompound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. | Journal of Medical Genetics
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abetalipoproteinaemia - General Practice Notebookabetalipoproteinaemia - General Practice Notebook
The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2021 Oxbridge Solutions Ltd®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook ...
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Microsomales Triglycerid-Transferprotein
Rehberg EF et al. (1996) A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.. [^] ...
http://www.moldiag.com/moldiag/de/id/G0346
Microsoft word - okap outline2014.doc
Several metabolic diseases are known to affect the CNS and retina. 1. Neuronal ceroid lipofuscinosis (Batten disease) b. accumulation of lipopigments within lysosomes of neurons, c. progressive dementia, seizures, visual loss, pigmentary d. Findings: optic atrophy, macular pigmentary changes with mottling of the fundus periphery, low or absent ERG e. Later onset cases may have bulls-eye-maculopathy f. adult forms of NCL do not have ocular manifestations 2. Abetalipoproteinemia and vitamin A deficiency b. apolipoprotein B is not synthesized. Leads to fat malabsorption and deficiencies of fat-soluble vitamins d. most common cause of vitamin A deficiency retinopathy is in 3. Peroxisomal disorders and Refsum disease b. Dysfunction or absence of peroxisomes or peroxisomal enzymes a. excessive quantities of incompletely metabolized acid b. autosomal recessive except for type II (Hunter) - x-linked c. Retinal dystrophy caused by storage of heparan sulfate only: i. MPS IH (Hurler syndrome) and MPS IS ...
http://pharmpdf.com/n/nyee.edu1.html
TEMPLATETEMPLATE
HEGELE, R.A.. Al-Shali, K., J. Wang, F. Rosen, and R.A. Hegele. 2003. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. Clinical Genetics 63: 135-138.. Argmann, C.A., C.G. Sawyez, C.J. McNeil, R.A. Hegele, and M.W. Huff. 2003. Activation of Peroxisome Proliferator-Activated Receptor Gamma and Retinoid X Receptor Results in Net Depletion of Cellular Cholesteryl Esters in Macrophages Exposed to Oxidized Lipoproteins. Arteriosclerosis, Thrombosis and Vascular Biology 23: 475-482.. Bhayana, S., V.M. Siu, G.I. Joubert, C.L. Clarson, H. Cao, and R.A. Hegele. 2002. Cardiomyopathy in congenital complete lipodystrophy. Clinical Genetics 61: 283-287.. Bjerregaard, P., E. Dewailly, T.K. Young, C. Blanchet, R.A. Hegele, S.E.O. Ebbesson, P.M. Risica, and G. Mulvad. 2003. Blood pressure among the Inuit (Eskimo) populations in the Arctic. Scandinavian Journal of Public Health 31: 92-99.. Bjerregaard, P., T.K. Young, and R.A. Hegele. 2003. Low incidence of cardiovascular disease among the Inuit ...
http://www.uwo.ca/western/publications/0203/medicine/FBBC03.htm
Helsebiblioteket.noHelsebiblioteket.no
200100 1-mediated 10-year 106 19 19-9 1;19 2-alfa 200100 2019ncov 21;22 23 2a 3kinase 3.6 3￢ﾀﾙkinase 47 5-alfa 51 538 56 58 62 62.5 68 78 84 88 92 abetalipoproteinemia abl aceta acetadryl acetagesic acetaminophen-diphenhydramine acetaminophendiphenhydra. ...
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Retinitis Pigmentosa | Clinical Genomics: Practical Applications in Adult Patient Care | AccessBiomedical Science | McGraw-Hill...Retinitis Pigmentosa | Clinical Genomics: Practical Applications in Adult Patient Care | AccessBiomedical Science | McGraw-Hill...
Many syndromes feature pigmentary retinal changes consistent with RP. In fact, some of the genes known to be mutated in these syndromes can be mutated in patients with isolated RP. For example, BBS3 and BBS9 are linked to Bardet-Biedl syndrome (BBS) which is characterized by RP, obesity, polydactyly, renal malformation, and hypogenitalism, but were also found to be mutated in patients with nonsyndromic RP. Other syndromes known to manifest with RP or RP-like lesions include Usher syndrome, Cohen syndrome, Cockayne syndrome, Refsum syndrome, neuronal ceroid lipofuscinosis, and abetalipoproteinemia. ...
http://accessbiomedicalscience.mhmedical.com/content.aspx?bookid=1094§ionid=61907128
Medicine in Quotations: Views of Health and Disease Through the Ages - Google B ckerMedicine in Quotations: Views of Health and Disease Through the Ages - Google B cker
Who was the first to write about a certain disease, diagnose it, and treat it? This book answers those questions for a wide range of diseases, from Abetalipoproteinemia to Zollinger-Ellison syndrome. What were the medical practitioners of previous generations hoping to achieve? What were their patients expecting of them? The answers are found in these quotations. Containing over 3,000 entries, and now updated with more than 450 new quotations, this new edition of Medicine in Quotations is the most comprehensive collection of its type published in over 30 years. It is much more than a random collection of famous sayings relating to sickness and health, disease and treatment; it is a portrait of medicine throughout recorded history. You will discover how medical concepts and practices have developed and shifted through the millennia, and how many illnesses recognized today were first identified a thousand or more years ago. Quotations are organized by topic, and each is fully referenced, allowing
https://books.google.se/books?id=zO8ehgKQMmMC&hl=sv&lr=
Words in 20 letters without GWords in 20 letters without G
List of all the English words with 20 letters not containing letter G. abdominohysterectomy, abequosyltransferase, abetalipoproteinemia, acanthokeratodermias, acetylaminopeptidase, acetylcholinesterase, acetyldihydrocodeine, acetylhexosaminidase, acetylmethylcarbinol
https://lotsofwords.com/-g/20-letters
2,852 English Words With OTE :: WordMine.info -- International Dictionary Search Engine2,852 English Words With OTE :: WordMine.info -- International Dictionary Search Engine
A List with 2,852 English Words With OTE - Words: ABETALIPOPROTEINAEMIA - ZYMOTECHNICS -- -- WordMine.info is a search engine for finding words. The searches can be done in a lots of different languages. Search Type: Crossword Solver, Words that starts with, Words Ending in, Words with, Palindrome Words Matching, Anagrams of, Words From Letters, Words In the Word, Words Matching Pattern,
http://www.wordmine.info/Search.aspx?slang=en&stype=words-with&sword=OTE
Adrenal function in heterozygous and homozygous hypobetalipoproteinemia<...Adrenal function in heterozygous and homozygous hypobetalipoproteinemia<...
TY - JOUR. T1 - Adrenal function in heterozygous and homozygous hypobetalipoproteinemia. AU - Illingworth, D. Roger. AU - Kenny, Terry A.. AU - Orwoll, Eric. PY - 1982. Y1 - 1982. N2 - Corticosteroid synthesis in the human adrenal cortex requires a supply of cholesterol which can be derived from both local synthesis and the uptake of plasma lipoproteins. Studies with cultured adrenal cells have shown that such uptake i s mediated through the interaction of plasma low density lipo-proteins (LDL) and a specific cellular receptor (the LDL receptor). In the present study we have examined parameters of adrenal corticosteroid production in a patient with phenotypic abetalipoproteinemia (on the basis of homozygous hypobetalip-oproteinemia) and in three of her relatives with inherently low levels of LDL (heterozygous hypobetalipoproteinemia). These studies sought to determine whether the absence of LDL or an inherent reduction in their plasma concentration results in alterations in corticosteroid ...
https://ohsu.pure.elsevier.com/en/publications/adrenal-function-in-heterozygous-and-homozygous-hypobetalipoprote-3
Vitamin E Deficiency Clinical Presentation: History, Physical, CausesVitamin E Deficiency Clinical Presentation: History, Physical, Causes
Vitamin E, one of the most important lipid-soluble antioxidant nutrients, is found in nut oils, sunflower seeds, whole grains, wheat germ, and spinach. Severe deficiency, as may occur in persons with abetalipoproteinemia or fat malabsorption, profoundly affects the central nervous system and can cause ataxia and a peripheral neuropathy resemb...
https://emedicine.medscape.com/article/126187-clinical
Vitamin E Deficiency: Background, PathophysiologyVitamin E Deficiency: Background, Pathophysiology
Vitamin E, one of the most important lipid-soluble antioxidant nutrients, is found in nut oils, sunflower seeds, whole grains, wheat germ, and spinach. Severe deficiency, as may occur in persons with abetalipoproteinemia or fat malabsorption, profoundly affects the central nervous system and can cause ataxia and a peripheral neuropathy resemb...
https://emedicine.medscape.com/article/126187-overview
WikiGenes - MTTP - microsomal triglyceride transfer proteinWikiGenes - MTTP - microsomal triglyceride transfer protein
The worlds first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
https://www.wikigenes.org/e/gene/e/471397.html
Have normal HDL, LDL, cholesterol, blood pressure. Found raised CRP level. What does this indicate?Have normal HDL, LDL, cholesterol, blood pressure. Found raised CRP level. What does this indicate?
Question - Have normal HDL, LDL, cholesterol, blood pressure. Found raised CRP level. What does this indicate?. Ask a Doctor about diagnosis, treatment and medication for Joint pains, Ask a Radiologist
http://www.healthcaremagic.com/premiumquestions/Have-normal-HDL-LDL-cholesterol-blood-pressure-Found-raised-CRP-level-What-does-this-indicate/45530
An intrinsic gut leptin-melanocortin pathway modulates intestinal microsomal triglyceride transfer protein and lipid absorption...An intrinsic gut leptin-melanocortin pathway modulates intestinal microsomal triglyceride transfer protein and lipid absorption...
TY - JOUR. T1 - An intrinsic gut leptin-melanocortin pathway modulates intestinal microsomal triglyceride transfer protein and lipid absorption. AU - Iqbal, Jahangir. AU - Li, Xiaosong. AU - Chang, Benny Hung Junn. AU - Chan, Lawrence. AU - Schwartz, Gary J.. AU - Chua, Streamson C.. AU - Hussain, M. Mahmood. PY - 2010/7/1. Y1 - 2010/7/1. N2 - Fat is delivered to tissues by apoB-containing lipoproteins synthesized in the liver and intestine with the help of an intracellular chaperone, microsomal triglyceride transfer protein (MTP). Leptin, a hormone secreted by adipose tissue, acts in the brain and on peripheral tissues to regulate fat storage and metabolism. Our aim was to identify the role of leptin signaling in MTP regulation and lipid absorption using several mouse models deficient in leptin receptor (LEPR) signaling and downstream effectors. Mice with spontaneous LEPR B mutations or targeted ablation of LEPR B in proopiomelanocortin (POMC) or agouti gene related peptide (AGRP) expressing ...
https://einstein.pure.elsevier.com/en/publications/an-intrinsic-gut-leptin-melanocortin-pathway-modulates-intestinal-2
Words in 20 letters ending with AWords in 20 letters ending with A
List of all the English words with 20 letters finishing by A. abetalipoproteinemia, achondroplasiaphobia, cholangiocarcinomata, cystadenocarcinomata, dermoodontodysplasia, dysgammaglobulinemia, ganglioneuroblastoma, gynandromorphophilia, hebesphenomegacorona
https://lotsofwords.com/
A common functional polymorphism in the promoter region of the microsomal triglyceride transfer protein gene influences plasma...A common functional polymorphism in the promoter region of the microsomal triglyceride transfer protein gene influences plasma...
Microsomal triglyceride transfer protein (MTP) is required for the assembly and cellular secretion of apolipoprotein B (apoB) -containing lipoproteins from the liver and intestine. The secretion pattern of apoB-containing lipoproteins is likely to influence the VLDL and LDL levels in plasma. By initial opportunistic screening for polymorphic sites in the regulatory region of the MTP gene by gene sequencing in 20 healthy male subjects, a common functional G/T polymorphism was detected 493 bp upstream from the transcriptional start point. There was differential binding of unique nuclear proteins at this site, as shown by electrophoretic mobility shift assay. The G variant seemed to bind two or three nuclear proteins that do not bind to the T variant. Expression studies with minimal promoter constructs linked to the chloramphenicol acetyltransferase reporter and transfected into HepG2 cells revealed marked enhancement of transcriptional activity with the T variant. The prevalence of the MTP promoter
https://www.rdm.ox.ac.uk/publications/11275
Oral microsomal triglyceride transfer protein inhibitor is beneficial in HoFH - PACE-CMEOral microsomal triglyceride transfer protein inhibitor is beneficial in HoFH - PACE-CME
In patients with HoFH, lomitapide led to a significant reduction of LDL-c levels and to achievement of EAS targets in many patients, while CV event rates correlated with LDL-c levels.
https://pace-cme.org/2018/06/28/oral-microsomal-triglyceride-transfer-protein-inhibitor-is-beneficial-in-hofh/
Common Polymorphism in the MTP Promoter Attenuates the Dyslipidemic and Proatherogenic Effects of Excess Body Weight |...Common Polymorphism in the MTP Promoter Attenuates the Dyslipidemic and Proatherogenic Effects of Excess Body Weight |...
To the Editor:. In overweight subjects, an elevated supply of intracellular lipid stimulates the microsomal triglyceride transfer protein (MTP)-dependent assembly of apoB-containing lipoproteins in both intestinal and hepatic tissues, with subsequent secretion into the circulation. The severity of the dyslipidemia which results is however highly variable among overweight subjects, suggesting that genetic background may modulate the dyslipidemic effect of excess weight. In this context, a functional polymorphism in the MTP gene promoter region was recently described in which homozygotes for a G-to-T substitution, located 493 bp upstream from the transcription initiation site, display lower plasma levels of apoB-containing lipoproteins than carriers of the −493G allele. Hypothetically, such a functional polymorphism of the MTP promoter may attenuate the dyslipidemic effects of excess body weight and, in this way, equally attenuate the development of atherosclerotic disease in overweight ...
http://atvb.ahajournals.org/content/24/8/e143
The antioxidant function of high density lipoproteins: a new paradigm in atherosclerosis]. - RegicorThe antioxidant function of high density lipoproteins: a new paradigm in atherosclerosis]. - Regicor
Rev Esp Cardiol 2004 Jun; 57 (6): 557-69, PMID: 15225502. The one disease associated with the greatest morbidity and mortality in industrialized countries is coronary heart disease (CHD). High density lipoprotein (HDL) is one of the most important independent protective factors for the arteriosclerosis which underlies CHD. Paraoxonase 1 (PON1) is an enzyme that confers antioxidant properties to HDL. In vitro, PON1 hydrolyzes a large variety of endogenous or exogenous substrates, some of which are clearly involved in the progression of arteriosclerosis. A close relationship between PON1 deficiency and accelerated progression of arteriosclerosis has been found in animal models. Moreover, PON1 activity is reduced in high oxidative stress diseases such as CHD, dyslipoproteinemias, inflammatory processes, diabetes and certain neuropathies. Reduced PON1 enzyme activity is associated with several arteriosclerosis-related diseases. The most thoroughly studied genetic variant of PON1 is PON1-192, in ...
https://regicor.cat/publicacions/genetica-cardiovascular/the-antioxidant-function-of-high-density-lipoproteins-a-new-paradigm-in-atherosclerosis/
Why Gynecologic Cancer Awareness Month Matters | The Dr. Oz ShowWhy Gynecologic Cancer Awareness Month Matters | The Dr. Oz Show
Its September again and that means its Gynecologic Cancer Awareness month. This may not mean much to a lot of people, but it means a whole lot to the 80,000 women per year in the United States who are diagnosed with a gynecologic cancer. Some of you may ask,
http://www.doctoroz.com/blog/judith-wolf-md/it-s-gynecologic-cancer-awareness-month
The Efficacy and Safety of Slentrol® (Dirlotapide), a Novel Microsomal Triglyceride Transfer Protein Inhibitor, Administered...The Efficacy and Safety of Slentrol® (Dirlotapide), a Novel Microsomal Triglyceride Transfer Protein Inhibitor, Administered...
Background. Dirlotapide causes body weight reduction in obese dogs primarily due to reductions in food intake.. Aims. To investigate the efficacy and safety of dirlotapide in overweight Labradors in two masked, parallel-design studies. Methods. Study A: 42 dogs randomised to 0.0, 0.025, 0.05, 0.1, 0.2 or 0.4 mg dirlotapide/kg/day orally for 4 weeks. Study B: 72 dogs randomised to nine treatments: placebo (24 weeks); dirlotapide (24 weeks) followed by placebo (28 weeks); or dirlotapide (52 weeks); on diets containing 5%, 10% or 15% fat, offered in excess of maintenance requirements. Dogs were weighed and dirlotapide dose (initially 0.1 mg/kg) was adjusted monthly. After 24 weeks, dosages were reduced to stabilise body weight. Body composition (body fat, lean tissue and bone mineral content) was monitored using dual-energy x-ray absorptiometry. Multiple blood samples were collected for haematology and biochemistry.. Results. Study A: body weight and food intake decreased asymptotically with dose, ...
https://www.vin.com/apputil/content/defaultadv1.aspx?pId=11242&meta=Generic&catId=31912&id=3860911&ind=30&objTypeID=17
Dyslipoproteinemia | Hazzards Geriatric Medicine and Gerontology, 7e | AccessMedicine | McGraw-Hill MedicalDyslipoproteinemia | Hazzards Geriatric Medicine and Gerontology, 7e | AccessMedicine | McGraw-Hill Medical
Dyslipoproteinemia encompasses a range of disorders of lipoprotein metabolism that include both abnormally high and low lipoprotein concentrations, as well as abnormalities in the composition of the lipoprotein particles. Dyslipoproteinemias are clinically relevant in older adults primarily due to their role in the pathogenesis of atherosclerotic cardiovascular disease (ASCVD), which includes coronary heart disease (CHD), cerebrovascular disease, peripheral arterial disease (PAD), and chronic renal disease. Older patients account for greater than 75% of total cardiovascular disease (CVD) mortality and 50% of all acute myocardial infarctions (MIs) in the United States. Although CVD morbidity and mortality have declined over recent decades, the percent reduction of CVD events is nearly 50% less in older patient groups. Dyslipidemia is a risk factor for ASCVD in older adults aged 60 to 80, and strong outcome data support pharmacologic therapy in this age group; however, the data are more limited ...
http://accessmedicine.mhmedical.com/Content.aspx?bookId=1923§ionId=144561473
Finding the Therapeutic Sweet Spot | Circulation: Genomic and Precision MedicineFinding the Therapeutic Sweet Spot | Circulation: Genomic and Precision Medicine
Human genetic research can pinpoint drug targets by identifying complete loss-of-function mutations affecting a human gene product that, in turn, underlie a favorable phenotype.1 Most small-molecule oral drugs, monoclonal antibodies, or RNA-based strategies act by inhibiting a selected molecular target, thereby pharmacologically mimicking the naturally advantageous genetic deficiency. The fields of atherosclerosis and lipoprotein biology have several examples of drugs whose raison dêtre is to impersonate a naturally occurring, genetically determined beneficial phenotype.. Article see p 677. For instance, 3 new classes of agents approved in the United States reduce low-density lipoprotein (LDL)-cholesterol levels through nonstatin mechanisms.2,3 These include (1) an oral inhibitor of microsomal triglyceride transfer protein (MTP), namely lomitapide (Juxtapid; Aegerion); (2) an injectable antisense oligonucleotide against apolipoprotein (apo) B, namely mipomersen (Kynamro; ISIS-Genzyme); and (3) ...
http://circgenetics.ahajournals.org/content/8/5/637
Leicester Research Archive: [Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C].
Eye movement abnormalities in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gauchers disease, abetalipoproteinemia and Wilsons disease. The eye movement abnormalities in our two patients were suggestive of Niemann Pick disease type C, characterized by initial loss of voluntary vertical eye movements and subsequent loss of horizontal eye movements, with preservation of the vestibulo-ocular response. The characteristics of eye movements in storage disorders are different. In Gauchers disease a progressive horizontal gaze palsy, in abetalipoproteinemia a particular type of internuclear ophthalmoplegia with nystagmus of the adducting eye and in Wilsons disease slowing of saccades may be observed ...
https://lra.le.ac.uk/handle/2381/22734
Similar papers for Clinical features and molecular bases of neuroacanthocytosis - Semantic ScholarSimilar papers for Clinical features and molecular bases of neuroacanthocytosis - Semantic Scholar
The term acanthocytosis is derived from the Greek for thorn and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis. Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency. This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa. Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia. Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome. Patients affected by this X-linked disorder
https://www.semanticscholar.org/paper/Clinical-features-and-molecular-bases-of-neuroacan-Rampoldi-Danek/7f89d20be81686512792d3eb39462aac08c5fcb3?tab=relatedPapers
Abstract 12117: Global Real-World Data on the Use of Lomitapide in Treating Homozygous Familial Hypercholesterolemia: The...Abstract 12117: Global Real-World Data on the Use of Lomitapide in Treating Homozygous Familial Hypercholesterolemia: The...
Introduction: Lomitapide is a microsomal triglyceride transfer protein inhibitor indicated as adjunctive therapy for adults with homozygous familial hypercholesterolemia (HoFH). LOWER is a global observational registry to prospectively assess long-term, safety and effectiveness of lomitapide in clinical practice. Adult HoFH patients treated with lomitapide in clinical practice are eligible.. Results: As of March 1, 2016, 143 patients had been enrolled in the USA, Canada, EU and Taiwan (Table); 139 patients had lomitapide exposure data (median 17.7 months, range 0.3-35.9 months). Globally, median lomitapide dose was 10 mg QD (range 5 mg QOD-40 mg QD, 6-33 months). A ≥ 50% reduction in LDL-C at any time post-baseline was measured in 58% of patients; 62% of patients achieved LDL-C , 100 mg/dL and 37% achieved LDL-C , 70 mg/dL. AEs were experienced by 73% of patients; GI disorders were the most common (45%). Serious AEs occurred in 21 (15%) patients. Thirty-three (24%) patients discontinued ...
http://circ.ahajournals.org/content/134/Suppl_1/A12117
Testing for acanthocytosis A prospective reader-blinded study in movement disorder patientsTesting for acanthocytosis A prospective reader-blinded study in movement disorder patients
The presence of acanthocytosis in peripheral blood smears remains the hallmark of the clinical diagnosis of most neuroacanthocytosis syndromes, such as chorea-acanthocytosis (ChAc) and McLeod syndrome. Genetic analyses and/or specific laboratory tests are available only for a minority of these disor …
https://pubmed.ncbi.nlm.nih.gov/15654559/?dopt=Abstract
Familial dysbetalipoproteinemia | definition of familial dysbetalipoproteinemia by Medical dictionaryFamilial dysbetalipoproteinemia | definition of familial dysbetalipoproteinemia by Medical dictionary
Looking for online definition of familial dysbetalipoproteinemia in the Medical Dictionary? familial dysbetalipoproteinemia explanation free. What is familial dysbetalipoproteinemia? Meaning of familial dysbetalipoproteinemia medical term. What does familial dysbetalipoproteinemia mean?
http://medical-dictionary.thefreedictionary.com/familial+dysbetalipoproteinemia
Monoclonal PCSK9 antibodies in the treatment of dyslipidemias | proLékaře.czMonoclonal PCSK9 antibodies in the treatment of dyslipidemias | proLékaře.cz
1. Vrablík M, Češka R. Novinky v oblasti hypolipidemické léčby. Vnitř Lék 2014; 60: 924- 932. 2. Cuchel M, Bloedon LT, Szapary PO et al. Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. N Engl J Med 2007; 356: 148- 156. 3. Kastelein JJ, Wedel MK, Baker BF et al. Potent reduction of apolipoprotein B and low‑ density lipoprotein cholesterol by short‑term administration of an antisense inhibitor of apolipoprotein B. Circulation 2006; 114: 1729- 1735. 4. Sacks FM, Stanesa M, Hegele RA. Severe hypertriglyceridemia with pancreatitis: thirteen years treat-ment with lomitapide. JAMA Intern Med 2014; 174: 443- 447. doi: 10.1001/ jamainternmed.2013.13309. 5. Seidah NG. PCSK9 as a therapeutic target of dyslipidemia. Expert Opin Ther Targets 2009; 13: 19- 28. doi: 10.1517/ 14728220802600715. 6. Catapano AL, Papadopoulos N. The safety of therapeutic monoclonal antibodies: implications for cardiovascular disease and targeting the PCSK9 pathway. ...
https://www.prolekare.cz/en/journals/cardiology-review/2014-6/monoclonal-pcsk9-antibodies-in-the-treatment-of-dyslipidemias-50709
Folding of the amino-terminal domain of apolipoprotein B initi...Folding of the amino-terminal domain of apolipoprotein B initi...
Folding of the amino-terminal domain of apolipoprotein B initiates microsomal triglyceride transfer protein-dependent lipid transfer to nascent very low density
https://www.mysciencework.com/publication/show/folding-amino-terminal-domain-apolipoprotein-b-initiates-microsomal-triglyceride-transfer-protein-dependent-lipid-trans-179b82fa
Mttp - mouse gene knockout kit via CRISPR - KN310512 | acris-antibodies.com
Mttp - mouse gene knockout kit via CRISPR, 1 kit. |dl||dt|Kit Component:|/dt||dd|- |strong|KN310512G1|/strong|, Mttp gRNA vector 1 in |a href=http://www.origene.com/CRISPR-CAS9/Detail.
https://www.acris-antibodies.com/crispr/mttp-mouse-gene-knockout-kit-via-crispr-kn310512.htm
Neuroacanthocytosis | Healthhype.comNeuroacanthocytosis | Healthhype.com
Red blood cells are disc shaped cells that carry oxygen in the blood. There are various disorders that can lead to an abnormal shape of these cells. The term acanthocytosis describes the presence of distorted red blood cells (acanthocytes) in the blood. The cells become denser and irregularly shaped with spiculated (sharp spur-like) protrusions. The normal shape of red blood cells are determined by certain proteins in its cell membrane. When there are certain defects or deficiencies of these proteins, abnormal shapes of the red blood cells are seen. However, these proteins are also common to other types of cells in the body like the nerve cells and brain tissue. This collectively leads to certain conditions marked by abnormalities of both the red blood cells and disturbances in brain function.. ...
http://www.healthhype.com/neuroacanthocytosis.html
Are religious people really less smart, on average, than atheists? - Research DigestAre religious people really less smart, on average, than atheists? - Research Digest
Past research has found that religiosity correlates with lower IQ, but this new study reveals evidence that complicates the picture. By Emma Young
https://digest.bps.org.uk/2018/01/26/are-religious-people-really-less-smart-on-average-than-atheists/?like_comment=29945&_wpnonce=c776ac51af
AbetalipoproteinemiaAbetalipoproteinemia
"Abetalipoproteinemia". Genetics Home Reference. Retrieved 2018-04-18. Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, ... "Abetalipoproteinemia - Genetics Home Reference". Retrieved 2008-02-24. Hentati F, El-Euch G, Bouhlal Y, Amouri R (2012). " ... Abetalipoproteinemia effects multiple physiological systems, the two most common being the nervous and the skeletal. Disruption ... The signs and symptoms of abetalipoproteinemia appear in the first few months of life (because pancreatic lipase is not active ...
https://en.wikipedia.org/wiki/Abetalipoproteinemia
MT-TPMT-TP
Mutations in MT-TP have been associated with Abetalipoproteinemia. Abetalipoproteinemia is an inherited disorder characterized ... "Abetalipoproteinemia". Genetics Home Reference. Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T (April ... Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H (August 1999). "Abetalipoproteinemia caused by maternal isodisomy of ... Al-Shali K, Wang J, Rosen F, Hegele RA (February 2003). "Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia". ...
https://en.wikipedia.org/wiki/MT-TP
Chronic diarrhea of infancyChronic diarrhea of infancy
"Abetalipoproteinemia , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ... From age 0-30 days, typical causes are: Abetalipoproteinemia, a condition caused by a genetic mutation that creates abnormal ... "Abetalipoproteinemia". Genetics Home Reference. Retrieved 2020-08-02. "Acrodermatitis enteropathica , Genetic and Rare Diseases ...
https://en.wikipedia.org/wiki/Chronic_diarrhea_of_infancy
List of OMIM disorder codesList of OMIM disorder codes
EDNRB Abetalipoproteinemia; 200100; MTP ACAD9 deficiency; 611126; ACAD9 Acampomelic campomelic dysplasia; 114290; SOX9 ...
https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
Microsomal triglyceride transfer proteinMicrosomal triglyceride transfer protein
Mar 1994). "Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride ... 1995). "The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain". Nat. Struct ... 1997). "A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal ... Mutations in MTP can cause abetalipoproteinemia. Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL, IDL, and VLDL ...
https://en.wikipedia.org/wiki/Microsomal_triglyceride_transfer_protein
HypobetalipoproteinemiaHypobetalipoproteinemia
Zamel, Rola; Khan, Razi; Pollex, Rebecca L.; Hegele, Robert A. (2008-07-08). "Abetalipoproteinemia: two case reports and ... Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia. A third form, ...
https://en.wikipedia.org/wiki/Hypobetalipoproteinemia
MalabsorptionMalabsorption
partial, as observed in abetalipoproteinaemia. total, as in exceptional cases of coeliac disease. Routine blood tests may ... abetalipoproteinaemia etc.) Enteroscopy for enteropathy and jejunal aspirate and culture for bacterial overgrowth Capsule ...
https://en.wikipedia.org/wiki/Malabsorption
AcanthocyteAcanthocyte
In abetalipoproteinemia, there is deficiency of lipids and vitamin E causing abnormal morphology of RBCs. The diagnosis of ... They are seen on blood films in abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome, and several ... This particular cause of acanthocytosis (also known as abetalipoproteinemia, apolipoprotein B deficiency, and Bassen-Kornzweig ... Alterations in membrane lipids are seen in abetalipoproteinemia and liver dysfunction. Alteration in membrane structural ...
https://en.wikipedia.org/wiki/Acanthocyte
Frank BassenFrank Bassen
It is also commonly recognized as a betalipoprotein deficiency or abetalipoproteinemia . Social Security Death Index. Frank ...
https://en.wikipedia.org/wiki/Frank_Bassen
Vitamin E deficiencyVitamin E deficiency
Muller DP, Lloyd JK, Wolff OH (1983). "Vitamin E and neurological function: abetalipoproteinaemia and other disorders of fat ... Familial isolated vitamin E deficiency Abetalipoproteinemia Tocopherol Institute of Medicine (2000). "Vitamin E". Dietary ... Abetalipoproteinemia is a rare inherited disorder of fat metabolism that results in poor absorption of dietary fat and vitamin ...
https://en.wikipedia.org/wiki/Vitamin_E_deficiency
Abraham KornzweigAbraham Kornzweig
He was also widely known as the co-discoverer and namer of Bassen-Kornzweig Syndrome, also called Abetalipoproteinemia. It was ... It is also commonly recognized as a betalipoprotein deficiency or abetalipoproteinemia. Kornzweig's publications include over ...
https://en.wikipedia.org/wiki/Abraham_Kornzweig
LipoproteinLipoprotein
This terminology is sometimes used in describing lipid disorders such as abetalipoproteinemia. Lipoproteins, such as LDL and ...
https://en.wikipedia.org/wiki/Lipoprotein
Autosomal recessive cerebellar ataxia type 1Autosomal recessive cerebellar ataxia type 1
Abetalipoproteinemia treatment is received for its potential in preventing vitamin E deficiency. (1000 mg/day for infants and ...
https://en.wikipedia.org/wiki/Autosomal_recessive_cerebellar_ataxia_type_1
Adrenal insufficiencyAdrenal insufficiency
Interruptions in the delivery of cholesterol include Smith-Lemli-Opitz syndrome and abetalipoproteinemia.[verification needed] ...
https://en.wikipedia.org/wiki/Adrenal_insufficiency
Addisons diseaseAddison's disease
Interruptions in the delivery of cholesterol include Smith-Lemli-Opitz syndrome and abetalipoproteinemia.[verification needed] ...
https://en.wikipedia.org/wiki/Addison's_disease
DyserythropoiesisDyserythropoiesis
... and abetalipoproteinemia. Acquired causes include nutrient deficiency/malnutrition (e.g. cobalamine, folate, and iron), ...
https://en.wikipedia.org/wiki/Dyserythropoiesis
Apolipoprotein BApolipoprotein B
Abetalipoproteinaemia is usually caused by a mutation in the MTP gene, MTP. Mutations in gene APOB100 can also cause familial ...
https://en.wikipedia.org/wiki/Apolipoprotein_B
Retinitis pigmentosaRetinitis pigmentosa
... and absence of VLDL is seen in abetalipoproteinemia. RP is seen clinically in association with several other rare genetic ...
https://en.wikipedia.org/wiki/Retinitis_pigmentosa
P4HBP4HB
"Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein ...
https://en.wikipedia.org/wiki/P4HB
SteatorrheaSteatorrhea
... inflammatory bowel disease and abetalipoproteinemia. Other causes: Drugs that can produce steatorrhea include orlistat, a ...
https://en.wikipedia.org/wiki/Steatorrhea
Subacute combined degeneration of spinal cordSubacute combined degeneration of spinal cord
... and abetalipoproteinemia (Bassen-Kornzweig syndrome). Carmel, Ralph (2007). "The Disappearance of Cobalamin Absorption Testing ...
https://en.wikipedia.org/wiki/Subacute_combined_degeneration_of_spinal_cord
AtaxiaAtaxia
Diseases include vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick type C disease, ... autosomal recessive spinocerebellar ataxia-14 and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare ...
https://en.wikipedia.org/wiki/Ataxia
Ankle jerk reflexAnkle jerk reflex
... autoimmune diseases Diabetic neuropathy Abetalipoproteinemia Electrolyte abnormalities Hypokalemia Deficiency disorders Vitamin ...
https://en.wikipedia.org/wiki/Ankle_jerk_reflex
Orphan drugOrphan drug
Abetalipoproteinemia Collaboration Foundation, Zellweger Baby Support Network, and the Friedreich's Ataxia Research Alliance ...
https://en.wikipedia.org/wiki/Orphan_drug
Otto Herbert WolffOtto Herbert Wolff
He discovered Abetalipoproteinemia, a disorder of blood lipids, that interferes with the normal absorption of fat and fat- ... childhood as a precursor of coronary artery disease and his recognition in 1960 of the rare condition of abetalipoproteinaemia ...
https://en.wikipedia.org/wiki/Otto_Herbert_Wolff
Fatty liver diseaseFatty liver disease
Metabolic abetalipoproteinemia, glycogen storage diseases, Weber-Christian disease, acute fatty liver of pregnancy, ...
https://en.wikipedia.org/wiki/Fatty_liver_disease
ABLABL
... may refer to: ABL (gene), a proto-oncogene associated with chronic myelogenous leukemia Abetalipoproteinemia, a rare ...
https://en.wikipedia.org/wiki/ABL
List of MeSH codes (C10)List of MeSH codes (C10)
... abetalipoproteinemia MeSH C10.228.140.163.100.162 - carbamoyl-phosphate synthase i deficiency disease MeSH C10.228.140.163. ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C10)
List of MeSH codes (C18)List of MeSH codes (C18)
... abetalipoproteinemia MeSH C18.452.100.100.162 - carbamoyl-phosphate synthase I deficiency disease MeSH C18.452.100.100.175 - ... abetalipoproteinemia MeSH C18.452.648.151.162 - carbamoyl-phosphate synthase i deficiency disease MeSH C18.452.648.151.168 - ... abetalipoproteinemia MeSH C18.452.339.875.440 - hypobetalipoproteinemia MeSH C18.452.339.875.448 - lecithin acyltransferase ... abetalipoproteinemia MeSH C18.452.648.556.500.440 - hypobetalipoproteinemia MeSH C18.452.648.556.500.448 - lecithin ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)
List of MeSH codes (C16)List of MeSH codes (C16)
... abetalipoproteinemia MeSH C16.320.565.150.162 - carbamoyl-phosphate synthase I deficiency disease MeSH C16.320.565.150.168 - ... abetalipoproteinemia MeSH C16.320.565.556.500.440 - hypobetalipoproteinemia MeSH C16.320.565.556.500.448 - lecithin ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)
Abetalipoproteinemia: MedlinePlus GeneticsAbetalipoproteinemia: MedlinePlus Genetics
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. ... Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called ... Individuals with abetalipoproteinemia usually have a low number of red blood cells (anemia. ) with abnormally star-shaped red ... Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. ...
https://medlineplus.gov/genetics/condition/abetalipoproteinemia/
Abetalipoproteinemia: Symptoms, Treatments, Diagnosis and Causes - Health32
AbetalipoproteinemiaAbetalipoproteinemia causesAbetalipoproteinemia SymptomsAbetalipoproteinemia treatmentHIV TestsMental ... Abetalipoproteinemia Symptoms. The list of signs and symptoms mentioned in various sources for Abetalipoproteinemia includes ... Abetalipoproteinemia: Causes and Types. Causes of Broader Categories of Abetalipoproteinemia: Review the causal information ... Abetalipoproteinemia Treatments. The list of treatments mentioned in various sources for Abetalipoproteinemia includes the ...
https://www.health32.com/abetalipoproteinemia-symptoms-treatments-diagnosis-and-causes/
Low LDL Cholesterol (Hypobetalipoproteinemia): Practice Essentials, Pathophysiology, Beta apolipoproteinsLow LDL Cholesterol (Hypobetalipoproteinemia): Practice Essentials, Pathophysiology, Beta apolipoproteins
Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are relatively uncommon inherited disorders of ... Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008 Jul 8. 3:19. [QxMD MEDLINE Link]. [Full ... Abetalipoproteinemia. MTP gene mutation. Formation and exocytosis of CMs at the basolateral membrane of intestinal epithelial ... Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. JAMA. 1993. ...
https://www.medscape.com/answers/121975-192193/what-is-the-role-of-beta-apolipoproteins-in-the-pathophysiology-of-abetalipoproteinemia-abl
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
... ... Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia / ... Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia / ... Monogenic hypobetalipoproteinemias include three disorders: abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD ...
https://iris.unimore.it/handle/11380/963740
IMSEAR at SEARO: Abetalipoproteinemia in an Indian family.
Abetalipoproteinemia in an Indian family. Indian Journal of Pediatrics. 1996 Mar-Apr; 63(2): 263-9. ...
https://imsear.searo.who.int/handle/123456789/81874?locale=es
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein...
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein ... Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein ...
https://www.well.ox.ac.uk/publications/165144
Do you know what is Abetalipoproteinemia - Eng. Edenilson BrandlDo you know what is Abetalipoproteinemia - Eng. Edenilson Brandl
Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. ... Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. ... Do you know what is Abetalipoproteinemia. Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the ... Abetalipoproteinemia was first reported in the medical literature by doctors Bassen and Kornzweig in 1950 and is also known as ...
https://parapsychologicalmedicine.com/do-you-know-what-is-abetalipoproteinemia/
Vitamin E deficiency: What are the signs?Vitamin E deficiency: What are the signs?
Two of these diseases, congenital abetalipoproteinemia and familial isolated vitamin E deficiency, are chronic and result in ... Abetalipoproteinemia. (2018, May 1). https://rarediseases.info.nih.gov/diseases/5/abetalipoproteinemia. ...
https://www.medicalnewstoday.com/articles/321800?utm_source=ReadNext
Neuroacanthocytosis Workup: Laboratory Studies, Imaging Studies, Other TestsNeuroacanthocytosis Workup: Laboratory Studies, Imaging Studies, Other Tests
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein ... Serum lipoproteins: In addition to the abetalipoproteinemia and hypobetalipoproteinemia, a case report of a patient with ... Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature. 1993 Sep 2 ... Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. J Clin Invest. 1988 ...
https://emedicine.medscape.com/article/1150817-workup
Anemia: Practice Essentials, Pathophysiology, EtiologyAnemia: Practice Essentials, Pathophysiology, Etiology
Anemia is strictly defined as a decrease in red blood cell (RBC) mass. The function of the RBC is to deliver oxygen from the lungs to the tissues and carbon dioxide from the tissues to the lungs.
https://emedicine.medscape.com/article/198475-overview
77 results in SearchWorks articles77 results in SearchWorks articles
3. Hypobetalipoproteinemia and abetalipoproteinemia [2014] * Welty, Francine K. *Current opinion in lipidology. 25(3):161-168 ...
https://searchworks.stanford.edu/articles?f%5Beds_publisher_facet%5D%5B%5D=lippincott+williams+%26+wilkins&q=%22Welty%2C+Francine+K.%22&search_field=author
Erythrocyte Morphology on Peripheral SmearErythrocyte Morphology on Peripheral Smear
This page includes the following topics and synonyms: Erythrocyte Morphology on Peripheral Smear, Erythrocyte Morphology, Red Blood Cell Morphology, Macrocyte, Microcyte, Spherocyte, Elliptocyte, Schistocyte, Acanthocyte, Spur Cell, Dacryocyte, Howell-Jolly, Target Cell, Basophilic Stippling, Sideroblast, Cabots Ring Bodies.
https://fpnotebook.com/hemeonc/Lab/ErythrcytMrphlgyOnPrphrlSmr.htm
Hypobetalipoproteinemias | Harvard Catalyst Profiles | Harvard CatalystHypobetalipoproteinemias | Harvard Catalyst Profiles | Harvard Catalyst
Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease. Curr Opin Lipidol. 2020 04; 31(2): ...
https://connects.catalyst.harvard.edu/Profiles/display/Concept/Hypobetalipoproteinemias
Diseases BrowserDiseases Browser
ABETALIPOPROTEINEMIA; ABL. 200100. 3. ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 200700. 200600. 1. ...
https://www.coriell.org/0/Sections/BrowseCatalog/Diseases.aspx?PgId=3
US Patent Application for METHODS OF USING PYRUVATE KINASE ACTIVATORS Patent Application (Application #20220211697 issued July...US Patent Application for METHODS OF USING PYRUVATE KINASE ACTIVATORS Patent Application (Application #20220211697 issued July...
... abetalipoproteinemia (or Bassen-Kornzweig syndrome), paroxysmal nocturnal hemoglobinuria, acquired hemolytic anemia (e.g., ... abetalipoproteinemia; Bassen-Kornzweig syndrome; or paroxysmal nocturnal hemoglobinuria, the method comprising orally ...
https://patents.justia.com/patent/20220211697
Retinitis Pigmentosa - NORD (National Organization for Rare Disorders)Retinitis Pigmentosa - NORD (National Organization for Rare Disorders)
Lastly, a rare RP syndrome is abetalipoproteinemia, or Bassen-Kornzweig syndrome, a disorder inherited in an autosomal ... Despite its rarity, awareness of the characteristics abetalipoproteinemia is very important because the syndrome is responsive ...
https://rarediseases.org/rare-diseases/retinitis-pigmentosa/
Encyclopedia of the Neurological Sciences - Elsevier Science & Technology - Literati by Credo
Abetalipoproteinemia (ABL, Bassen-Kornzweig Disease). *Abnormal Illness Behaviors. *Abscess, Brain and Spine ...
https://corp.credoreference.com/component/booktracker/edition/9863.html
Breastfeeding Archives - Keep Kids HealthyBreastfeeding Archives - Keep Kids Healthy
... so a supplement probably isnt necessary unless your child has a malabsorption problem or abetalipoproteinemia ...
https://keepkidshealthy.com/tag/breastfeeding/
Applying for the NDIS - HSP Research Foundation
Abetalipoproteinaemia. *Adult-onset spinal muscular atrophy/late-onset SMA type III). *Fazio-Londe disease/Progressive bulbar ...
https://hspersunite.org.au/resources/applying-for-the-ndis/
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the...Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the...
... namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that ... ABL, abetalipoproteinemia; AD, autosomal dominant; AR, autosomal recessive; apo AI, apolipoprotein A1; apo B; apolipoprotein B ... Muller DP, Lloyd JK, Wolff OH: The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and ... Azizi E, Zaidman JL, Eshchar J, Szeinberg A: Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with ...
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-24
Cases reported • Demyelinating diseasesCases reported • Demyelinating diseases
Abetalipoproteinaemia. A case report with pathological studies. The clinical and pathological features of a case of ... abetalipoproteinaemia in a 38-year-old patient are described in detail. A feature not previously recorded was a marked ...
https://lookfordiagnosis.com/cases.php?term=demyelinating+diseases&lang=1
Infectious Mononucleosis/Reactive Lymphocytes - A Laboratory Guide to Clinical HematologyInfectious Mononucleosis/Reactive Lymphocytes - A Laboratory Guide to Clinical Hematology
Hereditary Acanthocytosis (Abetalipoproteinemia). Michelle To and Valentin Villatoro. *. 52. Paroxysmal Nocturnal ...
https://openeducationalberta.ca/mlsci/chapter/infectious-mononucleosis/
A: Definitions IndexA: Definitions Index
Definitions index A for Websters New World College Dictionary, The American Heritage Dictionary of the English Language and Ologies & Isms.
https://www.yourdictionary.com/index/a
Lipid DisordersLipid Disorders
Abetalipoproteinemia. Cerebrotendinous xanthomatosis (CTX). Familial Chylomicronemia Syndrome (FCS). Familial ...
https://www.learnyourlipids.com/lipid-disorders/
Daxx Mouse Gene Details | Fas death domain-associated protein | International Mouse Phenotyping ConsortiumDaxx Mouse Gene Details | Fas death domain-associated protein | International Mouse Phenotyping Consortium
Phenotype data for mouse gene Daxx. Discover Daxxs significant phenotypes, expression, images, histopathology and more. Data for gene Daxx is all freely available for download.
https://www.mousephenotype.org/data/genes/MGI:1197015
HuGE Navigator|Genopedia|PHGKBHuGE Navigator|Genopedia|PHGKB
Abetalipoproteinemia 1 0 Adenocarcinoma 1 0 Cardiovascular Diseases 1 0 Colorectal Neoplasms 1 0 ...
https://phgkb.cdc.gov/PHGKB/huGEPedia.action?firstQuery=VPS13A&geneID=23230&typeSubmit=GO&check=y&typeOption=gene&which=2&pubOrderType=pubD
研究成果を検索 - Keio University
Abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa. Takeshita, J., Arai, Y., ...
https://keio.pure.elsevier.com/ja/publications/?format=&ordering=type&descending=false&page=14
nephrotic syndrome type 19 - Ontology Browser - Rat Genome Databasenephrotic syndrome type 19 - Ontology Browser - Rat Genome Database
abetalipoproteinemia + aceruloplasminemia achalasia microcephaly syndrome acheiropody achondrogenesis type IA achondrogenesis ...
https://rgd.mcw.edu/rgdweb/ontology/view.html?acc_id=DOID:0080394
Find Research outputs - Houston Methodist ScholarsFind Research outputs - Houston Methodist Scholars
HuGE Navigator|Phenopedia|PHGKBHuGE Navigator|Phenopedia|PHGKB
HypobetalipoproteinemiaAcanthocytosisRetinitis pigmentosaFamilial isolated vDisorderChylomicronInherited as an autosomal recesMicrosomalCystic fibrosisApolipoproteinMalabsorptionSymptomsIndividualsSyndromeListFamily
Hypobetalipoproteinemia9
  • Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. (medlineplus.gov)
  • Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are relatively uncommon inherited disorders of lipoprotein metabolism that cause low cholesterol levels. (medscape.com)
  • Monogenic hypobetalipoproteinemias include three disorders: abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) with recessive transmission and familial hypobetalipoproteinemia (FHBL) with dominant transmission. (unimore.it)
  • Serum lipoproteins: In addition to the abetalipoproteinemia and hypobetalipoproteinemia, a case report of a patient with aprebetalipoproteinemia has also been documented. (medscape.com)
  • Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease. (harvard.edu)
  • Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. (biomedcentral.com)
  • Over the last 20 years, genetic abnormalities have been identified for three main disorders classified as familial hypocholesterolemia: hypobetalipoproteinemia (HBL), abetalipoproteinemia (ABL) and chylomicron retention disease (CRD). (biomedcentral.com)
  • Hypobetalipoproteinemia and abetalipoproteinemia, and hepatic steatosis. (krakow.pl)
  • Extremely low concentrations of LDL-C are associated with abetalipoproteinemia and hypobetalipoproteinemia. (testcatalog.org)
Acanthocytosis1
  • All of the syndromes under the NA umbrella are distinguished from the Bassen-Kornzweig syndrome, an autosomal recessive disorder of childhood in which abetalipoproteinemia and acanthocytosis occur along with steatorrhea, retinitis pigmentosa, and cerebellar ataxia. (medscape.com)
Retinitis pigmentosa1
  • In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. (medlineplus.gov)
Familial isolated v2
  • Two of these diseases, congenital abetalipoproteinemia and familial isolated vitamin E deficiency , are chronic and result in extremely low vitamin E levels. (medicalnewstoday.com)
  • Chronic conditions like congenital abetalipoproteinemia or familial isolated Vitamin E deficiency are two common genetic causes of low Vitamin E levels. (acgrace.com)
Disorder5
  • Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. (medlineplus.gov)
  • Abetalipoproteinemia is a rare disorder. (medlineplus.gov)
  • Abetalipoproteinemia is a disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma. (health32.com)
  • Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. (parapsychologicalmedicine.com)
  • An abetalipoproteinemia is rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. (lotsofwords.com)
Chylomicron1
  • Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. (unimore.it)
Inherited as an autosomal reces1
  • Abetalipoproteinemia is inherited as an autosomal recessive trait and is caused by mutations in the microsomal triglyceride transfer protein ( MTTP ) gene. (parapsychologicalmedicine.com)
Microsomal2
  • Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called microsomal triglyceride transfer protein. (medlineplus.gov)
  • Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. (medscape.com)
Cystic fibrosis2
  • For the correction of vitamin E deficiency occurring in malabsorption disorders (i.e. cystic fibrosis, chronic cholestasis and abetalipoproteinaemia). (pharmazondirect.com)
  • It is also prescribed in certain other conditions like cystic fibrosis and abetalipoproteinaemia. (ethix.in)
Apolipoprotein1
  • Talmud PJ, Lloyd JK, Muller DP, Collins DR, Scott J, Humphries S. Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. (medscape.com)
Malabsorption1
  • Malabsorption of calcium can take place in celiac illness, intestinal abetalipoproteinemia, and immediately after small bowel resection. (ceravilla.com)
Symptoms2
  • The first signs and symptoms of abetalipoproteinemia appear in infancy. (medlineplus.gov)
  • Individuals with abetalipoproteinemia may experience a wide variety of symptoms affecting various parts of the body including the gastrointestinal tract, neurological system, eyes, and blood. (parapsychologicalmedicine.com)
Individuals1
  • Some individuals with abetalipoproteinemia may develop skeletal abnormalities including backward curvature (lordosis) or backward and sideways curvature of the spine (kyphoscoliosis), a highly arched foot (pes cavus) or clubfoot. (parapsychologicalmedicine.com)
Syndrome1
  • Abetalipoproteinemia was first reported in the medical literature by doctors Bassen and Kornzweig in 1950 and is also known as Bassen-Kornzweig syndrome. (parapsychologicalmedicine.com)
List2
  • The list of treatments mentioned in various sources for Abetalipoproteinemia includes the following list. (health32.com)
  • Here is the list of all the English words with 20 letters containing letter I grouped by number of letters: abdominohysterectomy, abetalipoproteinemia, acanthokeratodermias. (lotsofwords.com)
Family1
  • IMSEAR at SEARO: Abetalipoproteinemia in an Indian family. (who.int)