Amino Acid Transport Disorders, Inborn: Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)Amino Acid Transport Systems: Cellular proteins and protein complexes that transport amino acids across biological membranes.Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.Aminoisobutyric Acids: A group of compounds that are derivatives of the amino acid 2-amino-2-methylpropanoic acid.Amino Acid Transport Systems, Basic: Amino acid transporter systems capable of transporting basic amino acids (AMINO ACIDS, BASIC).Biological Transport: The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.Amino Acid Transport System A: A sodium-dependent neutral amino acid transporter that accounts for most of the sodium-dependent neutral amino acid uptake by mammalian cells. The preferred substrates for this transporter system include ALANINE; SERINE; and GLUTAMINE.Biological Transport, Active: The movement of materials across cell membranes and epithelial layers against an electrochemical gradient, requiring the expenditure of metabolic energy.Amino Acid Transport System L: A sodium-independent neutral amino acid transporter system with specificity for large amino acids. One of the functions of the transporter system is to supply large neutral amino acids to the brain.Oculocerebrorenal Syndrome: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)Renal Tubular Transport, Inborn Errors: Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.GTPase-Activating Proteins: Proteins that activate the GTPase of specific GTP-BINDING PROTEINS.Muscle Hypotonia: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.Phosphoric Monoester Hydrolases: A group of hydrolases which catalyze the hydrolysis of monophosphoric esters with the production of one mole of orthophosphate. EC 3.1.3.Dent Disease: X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.LEOPARD Syndrome: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.Syndrome: A characteristic symptom complex.Stevens-Johnson Syndrome: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dictionaries, ChemicalTerminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.Phonetics: The science or study of speech sounds and their production, transmission, and reception, and their analysis, classification, and transcription. (Random House Unabridged Dictionary, 2d ed)DictionaryLanguage: A verbal or nonverbal means of communicating ideas or feelings.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Amino Acid Metabolism, Inborn Errors: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.EncyclopediasLipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Glossitis: Inflammation of the tongue.Blindness, Cortical: Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)Anemia, Megaloblastic: A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.Anemia, Hemolytic: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).Hemolytic-Uremic Syndrome: A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.Purpura, Thrombotic Thrombocytopenic: An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE.Thrombotic Microangiopathies: Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation.Neonatal Screening: The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.Purine-Pyrimidine Metabolism, Inborn ErrorsSteroid Metabolism, Inborn Errors: Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.Carbohydrate Metabolism, Inborn ErrorsFructose Intolerance: An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.Alkaptonuria: An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.Glycogen Storage Disease Type I: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)Fructose-Bisphosphate Aldolase: An enzyme of the lyase class that catalyzes the cleavage of fructose 1,6-biphosphate to form dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. The enzyme also acts on (3S,4R)-ketose 1-phosphates. The yeast and bacterial enzymes are zinc proteins. (Enzyme Nomenclature, 1992) E.C. 4.1.2.13.Glycogen Storage Disease: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.Curriculum: A course of study offered by an educational institution.IndiaHealth Knowledge, Attitudes, Practice: Knowledge, attitudes, and associated behaviors which pertain to health-related topics such as PATHOLOGIC PROCESSES or diseases, their prevention, and treatment. This term refers to non-health workers and health workers (HEALTH PERSONNEL).Teaching: The educational process of instructing.Questionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., GENETIC ENGINEERING) is a central focus; laboratory methods used include TRANSFECTION and CLONING technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction.Computers

Expression of heteromeric amino acid transporters along the murine intestine. (1/5)

Members of the new heterodimeric amino acid transporter family are composed of two subunits, a catalytic multitransmembrane spanning protein (light chain) and a type II glycoprotein (heavy chain). These transporters function as exchangers and thereby extend the transmembrane amino acid transport selectivity to specific amino acids. The heavy chain rBAT associates with the light chain b degrees (,+)AT to form a cystine and cationic amino acid transporter. The other heavy chain, 4F2hc, can interact with seven different light chains to form various transporters corresponding to systems L, y(+)L, asc or x(-)(c). The importance of some of these transporters in intestinal and renal (re)absorption of amino acids is highlighted by the fact that mutations in either the rBAT or b degrees (,+)AT subunit result in cystinuria whereas a defect in the y(+)-LAT1 light chain causes lysinuric protein intolerance. Here we investigated the localization of these transporters in intestine since both diseases are also characterized by altered intestinal amino acid absorption. Real time PCR showed organ-specific expression patterns for all transporter subunit mRNAs along the intestine and Western blotting confirmed these findings on the protein level. Immunohistochemistry demonstrated basolateral coexpression of 4F2hc, LAT2 and y(+)-LAT1 in stomach and small intestine, whereas rBAT and b degrees (,+)AT were found colocalizing on the apical side of small intestine epithelium. In stomach, 4F2hc and LAT2 were localized in H(+)/K(+)-ATPase-expressing parietal cells. The abundant expression of several members of the heterodimeric transporter family along the murine small intestine suggests their involvement in amino acids absorption. Furthermore, strong expression of rBAT, b degrees (,+)AT and y(+)-LAT1 in the small intestine explains the reduced intestinal absorption of some amino acid in patients with cystinuria or lysinuric protein intolerance.  (+info)

Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. (2/5)

BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and secondary. Among the latter, lysinuric protein intolerance (LPI) is a rare genetic disorder caused by defective transport of cationic amino acids. Whole Lung Lavage (WLL) is currently the gold standard therapy for severe cases of PAP. CASE PRESENTATION: We describe the case of an Italian boy affected by LPI who, by the age of 10, developed digital clubbing and, by the age of 16, a mild restrictive functional impairment associated with a high-resolution computed tomography (HRCT) pattern consistent with pulmonary alveolar proteinosis. After careful assessment, he underwent WLL. CONCLUSION: Two years after WLL, the patient has no clinical, radiological or functional evidence of pulmonary disease recurrence, thus suggesting that WLL may be helpful in the treatment of PAP secondary to LPI.  (+info)

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (3/5)

 (+info)

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. (4/5)

 (+info)

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. (5/5)

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  • The three amino acids comprising glutathione are glutamate, cysteine, and glycine. (asnjournals.org)
  • Guanidinoacetic acid (GAA, also known as glycocyamine or betacyamine) is a naturally-occurring derivative of glycine and a direct metabolic precursor of creatine, a key player in high-phosphate cellular bioenergetics. (medsci.org)
  • Besides serving as a direct precursor of creatine, GAA appears to have no other major physiological roles [ 8 ], although exogenous GAA may stimulate hormonal release and neuromodulation, alter metabolic utilization of amino acids ( e.g. , arginine, creatine), and act as an oxidant-antioxidant tuner [ 9 ]. (medsci.org)
  • In our body, Progeroid Syndromes (Progeria) , aka Premature Aging Syndromes, are rare group of accelerated aging dis-orders , with possibly genetic inborn metabolic errors , characterized by clinical features mimicking physiological aging at an early age, and may cause real premature aging with shorten life expectancies. (wellnessadvocate.com)
  • A novel mutation, c.850G→A, in exon 6 of the SLC6A19 gene was described in a Chinese family with typical clinical characteristics of Hartnup disorder. (medscape.com)
  • An alternative strategy to detect amino acid deficiencies is the indicator amino acid oxidation method [ 8 ], but this method should be used for research purposes rather than for clinical practice. (biomedcentral.com)
  • A number of clinical syndromes have been described that have as their basic foundation a defect in some transport function of the renal tubule (Table 1), and several of them are inherited. (springer.com)
  • Dr. Hahn developed and validated clinical genetic test on mitochondrial disorders by high-throughput next generation sequencing technology. (seattlechildrens.org)
  • The clinical presentation is dependent upon the specific amino acid disorder. (testcatalog.org)
  • Amino acid disorders are presented with variable and often nonspecific clinical symptoms. (intechopen.com)
  • This clinical report will not address the importance of developmental screening in the medical home, nor will it address the diagnostic evaluation of the child with an autism spectrum disorder who happens to have ID as a co-occurring disability. (aappublications.org)
  • It also lowers glutamic acid in the brain, and preliminary clinical trials suggest taurine may be useful in some forms of epilepsy. (selfdecode.com)
  • Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. (hindawi.com)
  • This paper provides an overview of inborn metabolic errors associated with persistent brain disturbances due to highly active clinical or electrographic ictal activity. (hindawi.com)
  • Details including key clinical features, salient electrophysiological and neuroradiological findings, biochemical findings, and treatment options are summarized for prominent disorders in each category. (hindawi.com)
  • Inherited metabolic epilepsies are disorders that, while individually rare, are in aggregate a substantial clinical portion of child neurology, as well as a complex field of knowledge for physicians, investigators, and students to tackle. (hindawi.com)
  • A subset of these disorders can lead to the development of epileptic encephalopathy, that is, a brain disturbance due to highly active clinical or electrographic ictal activity. (hindawi.com)
  • This paper provides an overview of inborn metabolic errors associated with epileptic encephalopathy, summarizing key clinical features and underlying biochemistry, salient electrophysiological and neuroradiological findings, and primary treatment options where appropriate. (hindawi.com)
  • Clinical manifestations and growth of patients with urea cycle disorders in Japan. (thefreedictionary.com)
  • Message: EE is clinically-recognizable disorder with typical clinical features. (bvsalud.org)
  • Affected children who are detected at birth and treated are much less likely to develop neurological problems or have seizures and intellectual disability (though such clinical disorders are still possible. (wikipedia.org)
  • The phenylpyruvic acid has also been shown to inhibit the enzyme pyruvate decarboxylase in brain. (allbest.ru)
  • Adrenoleukodystrophy (ALD) - This is a rare but fatal genetic disorder in which patients accumulate high levels of saturated, very-long-chain fatty acids in the brain and adrenal cortex, which develop because they cannot produce an enzyme that breaks down fatty acids. (coem.com)
  • The diagnosis is based on plasmatic and urinary amino and organic acid determinations as well as on the measurement of enzyme activity in fibroblastic cultures (2) . (ajnr.org)
  • The disorder has been attributed to glutathione depletion and activation of a key enzyme in the γ -glutamyl cycle. (asnjournals.org)
  • Children with mild or moderate urea cycle enzyme deficiencies may not show symptoms until early childhood, or may be diagnosed subsequent to identification of the disorder in a more severely affected relative or through newborn screening. (bionity.com)
  • Which enzyme is responsible for the conversion of HGA to Maleylacetoacetic Acid? (studystack.com)
  • Examples of specific disorders are discussed, with full listings of the multiple enzyme defects and diseases in particular categories presented in tables. (hindawi.com)
  • Diseases of the Nervous System in Childhood provides up-to-date information on the full range of these neurological disorders, from fetal and neonatal neurology to adolescence. (b-ok.org)
  • Last week, the Global Genes Project , leading patient advocacy organizations representing the rare disease community, issued the RARE List™ , a stunning 65 page alphabetical listing of roughly 7,000 known rare diseases and disorders. (addiandcassi.com)
  • Other current projects in his lab focus on developing peptide finger printing analysis by tandem mass spectrometry for various metabolic and genetic disorders including cystinosis and primary immunodeficiencies. (seattlechildrens.org)
  • The introduction of tandem mass spectrometry (MS/MS) in the 1990s by Millington and coworkers for population-based newborn screening has helped healthcare providers detect an increased number of metabolic disorders. (loveysmarket.com)
  • In United States, the disease usually does not manifest because the diet is rich in essential amino acids. (ispub.com)
  • Nitrogen bases are of two types: purines, such as adenine (A) and guanine (G), and pyrimidines, such as cytosine (C) and thymine (T). Long strands of nucleotides form nucleic acids. (loveysmarket.com)
  • Nucleic acids : Nucleotides - DNA & RNA Structure, Nucleic acid analogues of medical importance. (edu.in)
  • The sugars will be transported by the cytoskeleton through the epithelial cells and released in the connective matrix of the lamina basalis, as the concentrations will rapidly increase, diffusion towards the capillaries follows automatically. (fichier-pdf.fr)
  • Nutritional requirements - RDA, SDA, Balanced diet and limiting amino acid. (edu.in)
Thermal Transport in Supported Graphene Nanomesh.
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Internet Scientific Publications
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Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction | The...
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Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria - Full Text View -...
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Pathology of amino acid metabolism
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Hartnup disease | Britannica.com
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Avery's Diseases of the Newborn
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About | Annals of Clinical Endocrinology and Metabolism | HSPC
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Congenital Anomalies: Neurologic Emergencies | 2015-02-23 | AHC Media: Continuing Medical Education Publishing
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Inborn Errors of Amino Acid Metabolism Assignment Help & Homework Help
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Disorders of Carbohydrate Metabolism and Amino Acid Metabolism
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Inherited Renal Tubular Disorders | SpringerLink
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Acetaminophen Toxicity and 5-Oxoproline (Pyroglutamic Acid): A Tale of Two Cycles, One an ATP-Depleting Futile Cycle and the...
Acetaminophen Toxicity and 5-Oxoproline (Pyroglutamic Acid): A Tale of Two Cycles, One an ATP-Depleting Futile Cycle and the... (cjasn.asnjournals.org)
Metabolic Disorders: Part I - Annalies Corse Lecturer
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Guanidinoacetic acid deficiency: a new entity in clinical medicine?
Guanidinoacetic acid deficiency: a new entity in clinical medicine? (medsci.org)
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases | Ebook | Ellibs Ebookstore
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TAURINE | SelfDecode | Genome Analysis
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Questions & Answers
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Metabolic Causes of Epileptic Encephalopathy
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Aicardi's Diseases of the Nervous System in Childhood | Alexis Arzimanoglou, Anne O'Hare , Michael V Johnston , Robert Ouvrier ...
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Cystinuria Labrador Retriever type (L-CYS) - AnimaLabs©
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FYSIOLOGIE par Who Nows - Part 4 METABOLIC PHYSIOLOGY (PER SUBSTANCE) pdf - Fichier PDF
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The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series ...
The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series ... (link.springer.com)
Guanidinoacetate methyltransferase deficiency: MedlinePlus Genetics
Guanidinoacetate methyltransferase deficiency: MedlinePlus Genetics (medlineplus.gov)
Biotinidase Deficiency: Background, Pathophysiology, Epidemiology
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Disorders of Organic Acid Metabolism | SpringerLink
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Metab, Misc + CDB Flashcards by Carla Marie Lee | Brainscape
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General Information | David M. Koeller, M.D. | OHSU People | OHSU
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A systematic review of cognitive functioning in early treated adults with phenylketonuria | Orphanet Journal of Rare Diseases |...
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