alpha-Mannosidosis
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
Mannose
alpha-Mannosidase
An enzyme that catalyzes the HYDROLYSIS of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. The enzyme plays a role in the processing of newly formed N-glycans and in degradation of mature GLYCOPROTEINS. There are multiple isoforms of alpha-mannosidase, each having its own specific cellular location and pH optimum. Defects in the lysosomal form of the enzyme results in a buildup of mannoside intermediate metabolites and the disease ALPHA-MANNOSIDOSIS.
Swainsonine
Cat Diseases
Cattle Diseases
Oligosaccharides
Lysosomes
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Cobalt
Chromatography, Thin Layer
Edetic Acid
Cattle
Isoelectric Focusing
alpha 1-Antitrypsin
Receptors, Adrenergic, alpha
One of the two major pharmacological subdivisions of adrenergic receptors that were originally defined by the relative potencies of various adrenergic compounds. The alpha receptors were initially described as excitatory receptors that post-junctionally stimulate SMOOTH MUSCLE contraction. However, further analysis has revealed a more complex picture involving several alpha receptor subtypes and their involvement in feedback regulation.
Hypoxia-Inducible Factor 1, alpha Subunit
alpha7 Nicotinic Acetylcholine Receptor
Integrin alpha3beta1
Cell surface receptor for LAMININ, epiligrin, FIBRONECTINS, entactin, and COLLAGEN. Integrin alpha3beta1 is the major integrin present in EPITHELIAL CELLS, where it plays a role in the assembly of BASEMENT MEMBRANE as well as in cell migration, and may regulate the functions of other integrins. Two alternatively spliced isoforms of the alpha subunit (INTEGRIN ALPHA3), are differentially expressed in different cell types.
Integrin alpha4
Integrin alpha6
An integrin alpha subunit that primarily associates with INTEGRIN BETA1 or INTEGRIN BETA4 to form laminin-binding heterodimers. Integrin alpha6 has two alternatively spliced isoforms: integrin alpha6A and integrin alpha6B, which differ in their cytoplasmic domains and are regulated in a tissue-specific and developmental stage-specific manner.
Integrin alpha5beta1
Integrin alpha4beta1
Integrin alpha4beta1 is a FIBRONECTIN and VCAM-1 receptor present on LYMPHOCYTES; MONOCYTES; EOSINOPHILS; NK CELLS and thymocytes. It is involved in both cell-cell and cell- EXTRACELLULAR MATRIX adhesion and plays a role in INFLAMMATION, hematopoietic cell homing and immune function, and has been implicated in skeletal MYOGENESIS; NEURAL CREST migration and proliferation, lymphocyte maturation and morphogenesis of the PLACENTA and HEART.
Interleukin-1alpha
Integrin alpha2beta1
An integrin found on fibroblasts, platelets, endothelial and epithelial cells, and lymphocytes where it functions as a receptor for COLLAGEN and LAMININ. Although originally referred to as the collagen receptor, it is one of several receptors for collagen. Ligand binding to integrin alpha2beta1 triggers a cascade of intracellular signaling, including activation of p38 MAP kinase.
Receptors, Adrenergic, alpha-1
Integrin alpha5
Integrin alpha1beta1
Integrin alpha1beta1 functions as a receptor for LAMININ and COLLAGEN. It is widely expressed during development, but in the adult is the predominant laminin receptor (RECEPTORS, LAMININ) in mature SMOOTH MUSCLE CELLS, where it is important for maintenance of the differentiated phenotype of these cells. Integrin alpha1beta1 is also found in LYMPHOCYTES and microvascular endothelial cells, and may play a role in angiogenesis. In SCHWANN CELLS and neural crest cells, it is involved in cell migration. Integrin alpha1beta1 is also known as VLA-1 and CD49a-CD29.
Receptors, Adrenergic, alpha-2
A subclass of alpha-adrenergic receptors found on both presynaptic and postsynaptic membranes where they signal through Gi-Go G-PROTEINS. While postsynaptic alpha-2 receptors play a traditional role in mediating the effects of ADRENERGIC AGONISTS, the subset of alpha-2 receptors found on presynaptic membranes signal the feedback inhibition of NEUROTRANSMITTER release.
Integrin alpha6beta1
A cell surface receptor mediating cell adhesion to the EXTRACELLULAR MATRIX and to other cells via binding to LAMININ. It is involved in cell migration, embryonic development, leukocyte activation and tumor cell invasiveness. Integrin alpha6beta1 is the major laminin receptor on PLATELETS; LEUKOCYTES; and many EPITHELIAL CELLS, and ligand binding may activate a number of signal transduction pathways. Alternative splicing of the cytoplasmic domain of the alpha6 subunit (INTEGRIN ALPHA6) results in the formation of A and B isoforms of the heterodimer, which are expressed in a tissue-specific manner.
Base Sequence
Integrin alpha6beta4
This intrgrin is a key component of HEMIDESMOSOMES and is required for their formation and maintenance in epithelial cells. Integrin alpha6beta4 is also found on thymocytes, fibroblasts, and Schwann cells, where it functions as a laminin receptor (RECEPTORS, LAMININ) and is involved in wound healing, cell migration, and tumor invasiveness.
Integrin alpha Chains
The alpha subunits of integrin heterodimers (INTEGRINS), which mediate ligand specificity. There are approximately 18 different alpha chains, exhibiting great sequence diversity; several chains are also spliced into alternative isoforms. They possess a long extracellular portion (1200 amino acids) containing a MIDAS (metal ion-dependent adhesion site) motif, and seven 60-amino acid tandem repeats, the last 4 of which form EF HAND MOTIFS. The intracellular portion is short with the exception of INTEGRIN ALPHA4.
Integrins
A family of transmembrane glycoproteins (MEMBRANE GLYCOPROTEINS) consisting of noncovalent heterodimers. They interact with a wide variety of ligands including EXTRACELLULAR MATRIX PROTEINS; COMPLEMENT, and other cells, while their intracellular domains interact with the CYTOSKELETON. The integrins consist of at least three identified families: the cytoadhesin receptors(RECEPTORS, CYTOADHESIN), the leukocyte adhesion receptors (RECEPTORS, LEUKOCYTE ADHESION), and the VERY LATE ANTIGEN RECEPTORS. Each family contains a common beta-subunit (INTEGRIN BETA CHAINS) combined with one or more distinct alpha-subunits (INTEGRIN ALPHA CHAINS). These receptors participate in cell-matrix and cell-cell adhesion in many physiologically important processes, including embryological development; HEMOSTASIS; THROMBOSIS; WOUND HEALING; immune and nonimmune defense mechanisms; and oncogenic transformation.
Integrin alpha1
Alpha Rhythm
Integrin alpha3
An integrin alpha subunit that occurs as alternatively spliced isoforms. The isoforms are differentially expressed in specific cell types and at specific developmental stages. Integrin alpha3 combines with INTEGRIN BETA1 to form INTEGRIN ALPHA3BETA1 which is a heterodimer found primarily in epithelial cells.
alpha 1-Antitrypsin Deficiency
Protein Binding
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Receptors, Nicotinic
One of the two major classes of cholinergic receptors. Nicotinic receptors were originally distinguished by their preference for NICOTINE over MUSCARINE. They are generally divided into muscle-type and neuronal-type (previously ganglionic) based on pharmacology, and subunit composition of the receptors.
PPAR alpha
Dinoprost
Adrenergic alpha-Antagonists
Hepatocyte Nuclear Factor 1-alpha
Binding Sites
Transfection
alpha 1-Antichymotrypsin
Glycoprotein found in alpha(1)-globulin region in human serum. It inhibits chymotrypsin-like proteinases in vivo and has cytotoxic killer-cell activity in vitro. The protein also has a role as an acute-phase protein and is active in the control of immunologic and inflammatory processes, and as a tumor marker. It is a member of the serpin superfamily.
Transforming Growth Factor alpha
Signal Transduction
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Gene Expression Regulation
Transcription Factors
Adrenergic alpha-1 Receptor Antagonists
alpha Karyopherins
Nucleocytoplasmic transport molecules that bind to the NUCLEAR LOCALIZATION SIGNALS of cytoplasmic molecules destined to be imported into the CELL NUCLEUS. Once attached to their cargo they bind to BETA KARYOPHERINS and are transported through the NUCLEAR PORE COMPLEX. Inside the CELL NUCLEUS alpha karyopherins dissociate from beta karypherins and their cargo. They then form a complex with CELLULAR APOPTOSIS SUSCEPTIBILITY PROTEIN and RAN GTP-BINDING PROTEIN which is exported to the CYTOPLASM.
Macromolecular Substances
Tumor Necrosis Factor-alpha
Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS.
Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. (1/56)
Alpha-mannosidosis is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the lysosomal alpha-mannosidase, which is involved in the degradation of asparagine-linked carbohydrate cores of glycoproteins. An alpha-mannosidosis mouse model was generated by targeted disruption of the gene for lysosomal alpha-mannosidase. Homozygous mutant animals exhibit alpha-mannosidase enzyme deficiency and elevated urinary secretion of mannose-containing oligosaccharides. Thin-layer chromatography revealed an accumulation of oligosaccharides in liver, kidney, spleen, testis and brain. The cellular alterations were characterized by multiple membrane-limited cytoplasmic vacuoles as seen for instance in liver, exocrine pancreas, kidney, thyroid gland, smooth muscle cells, osteocytes and in various neurons of the central and peripheral nervous systems. The morphological lesions and their topographical distribution, as well as the biochemical alterations, closely resemble those reported for human alpha-mannosidosis. This mouse model will be a valuable tool for studying the pathogenesis of inherited alpha-mannosidosis and may help to evaluate therapeutic approaches for lysosomal storage diseases. (+info)Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (2/56)
Glycoproteinoses belong to the lysosomal storage disorders group. The common feature of these diseases is the deficiency of a lysosomal protein that is part of glycan catabolism. Most of the lysosomal enzymes involved in the hydrolysis of glycoprotein carbohydrate chains are exo-glycosidases, which stepwise remove terminal monosaccharides. Thus, the deficiency of a single enzyme causes the blockage of the entire pathway and induces a storage of incompletely degraded substances inside the lysosome. Different mutations may be observed in a single disease and in all cases account for the nonexpression of lysosomal glycosidase activity. Different clinical phenotypes generally characterize a specific disorder, which rather must be described as a continuum in severity, suggesting that other biochemical or environmental factors influence the course of the disease. This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycoprotein lysosomal storage disorders, respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Moreover, several animal disorders of glycoprotein metabolism have been found and constitute valuable models for the understanding of their human counterparts. (+info)Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (3/56)
A neurologic disease characterized by ataxia, hypermetria, hyperesthesia, and muscle tremors of the head and neck was observed for 2 years in a flock of 28 Anglo-Nubian and Saanen goats on a farm with 5 ha of pasture. Six newborns died during the first week of life, and five abortions were recorded. The predominant plant in the pasture was Sida carpinifolia. The disease was reproduced experimentally in two goats by administration of this plant. Three goats with spontaneous disease and the two experimental animals were euthanatized and necropsied. No significant gross lesions were observed. Fragments of several organs, including the central nervous system, were processed for histopathology. Small fragments of the cerebellar cortex, liver, and pancreas of two spontaneously poisoned goats and two experimentally poisoned goats were processed for electron microscopy. Multiple cytoplasm vacuoles in hepatocytes, acinar pancreatic cells, and neurons, especially Purkinje cells, were the most striking microscopic lesions in the five animals. Ultrastructural changes included membrane-bound vacuoles in hepatocytes, Kupffer cells, acinar pancreatic cells, Purkinje cells, and the small neurons of the granular cell layer of the cerebellum. Paraffin-embedded sections of the cerebellum and pancreas were submitted for lectin histochemical analysis. The vacuoles in different cerebellar and acinar pancreatic cells reacted strongly to the following lectins: Concanavalia ensiformis, Triticum vulgaris, and succinylated Triticum vulgaris. The pattern of staining, analyzed in Purkinje cells and acinar pancreatic cells coincides with results reported for both swainsonine toxicosis and inherited mannosidosis. (+info)Recent progress in lysosomal alpha-mannosidase and its deficiency. (4/56)
Lysosomal alpha-mannosidase (EC 3.2.1.24) is a major exoglycosidase in the glycoprotein degradation pathway. A deficiency of this enzyme causes the lysosomal storage disease, alpha-mannosidosis, which has been described in humans, cattle, domestic cats and guinea pigs. Recently, great progress has been made in studying the enzyme and its deficiency. This includes cloning of the gene encoding the enzyme, characterization of mutations related to the disease, establishment of valuable animal models, and encouraging results from bone marrow transplantation experiments. (+info)alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis. (5/56)
alpha-Mannosidosis is a lysosomal storage disorder caused by deficient activity of the lysosomal alpha-mannosidase. We report here the sequencing and expression of the lysosomal alpha-mannosidase cDNA from normal and alpha-mannosidosis guinea pigs. The amino acid sequence of the guinea pig enzyme displayed 82-85% identity to the lysosomal alpha-mannosidase in other mammals. The cDNA of the alpha-mannosidosis guinea pig contained a missense mutation, 679C>T, leading to substitution of arginine by tryptophan at amino acid position 227 (R227W). The R227W allele segregated with the alpha-mannosidosis genotype in the guinea pig colony and introduction of R227W into the wild-type sequence eliminated the production of recombinant alpha-mannosidase activity in heterologous expression studies. Furthermore, the guinea pig mutation has been found in human patients. Our results strongly indicate that the 679C>T mutation causes alpha-mannosidosis and suggest that the guinea pig will be an excellent model for investigation of pathogenesis and evaluation of therapeutic strategies for human alpha-mannosidosis. (+info)Alpha-mannosidosis and mutational analysis in a Turkish patient. (6/56)
We present a case of alpha-mannosidosis with its mutational analysis. She was referred to our hospital with the provisional diagnosis of mucolipidosis. She was the first child of second-degree relative parents. She had a coarse face with flat and wide nasal bridge, hepatosplenomegaly, umbilical hernia, lumbar gibbus, motor and mental retardation and deafness. On peripheral blood smear, lymphocytes revealed vacuoles and neutrophils contained some granules resembling Reilly bodies seen in mucopolysaccharidosis (MPS). Based on these findings, the diagnosis of alpha-mannosidosis was suspected. Her urine oligosaccharide chromatography showed an abnormal pattern with a heavy trisaccharide band. Enzyme studies on white cells confirmed a deficiency of alpha-mannosidase activity, which was 2.6 micromol/g/hr. Her DNA analysis showed a S453Y mutation. (+info)Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection. (7/56)
Plasma beta-mannosidase activities were determined for Salers cattle from 8 herds as an evaluation of this method for detection of beta-mannosidosis heterozygotes. Several biological factors, such as age, gender, herd, and risk of being a beta-mannosidosis carrier, were considered in this study. The mean enzyme activity for obligate heterozygotes (n = 8) was 55 U/ml (range = 43-65 U/ml), which was 59% of the mean enzyme activity for cattle that were low risk for being a carrier. These data indicate that bovine beta-mannosidosis is characterized by a gene dosage effect. The analytical and biological variation of plasma beta-mannosidase activity that was observed necessitates limiting the test to adult fullblood/purebred Salers cattle within a herd. Plasma beta-mannosidase analysis provides important information for intraherd selection of Salers cattle that are heterozygous for beta-mannosidosis. (+info)Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. (8/56)
Human LAMAN (lysosomal a-mannosidase) was synthesized as a 120 kDa precursor in transfected COS cells [African-green-monkey kidney cells], which was partly secreted as a single-chain form and partly sorted to the lysosomes being subsequently cleaved into three peptides of 70, 40 and 15 kDa respectively. Both the secreted and the lysosomal forms contained endo H (endoglucosidase H)-resistant glycans, suggesting a common pathway through the trans-Golgi network. A fraction of LAMAN was retained intracellularly as a single-chain endo H-sensitive form, probably in the ER (endoplasmic reticulum). The inherited lack of LAMAN causes the autosomal recessive storage disease a-mannosidosis. To understand the biochemical consequences of the disease-causing mutations, 11 missense mutations and two in-frame deletions were introduced into human LAMAN cDNA by in vitro mutagenesis and the resulting proteins were expressed in COS cells. Some selected mutants were also expressed in Chinese-hamster ovary cells. T355P (Thr355Pro), P356R, W714R, R750W and L809P LAMANs as well as both deletion mutants were misfolded and arrested in the ER as inactive single-chain forms. Six of the mutants were transported to the lysosomes, either with less than 5% of normal specific activity (H72L, D196E/N and R220H LAMANs) or with more than 30% of normal specific activity (E402K LAMAN). F320L LAMAN resulted in much lower activity in Chinese-hamster ovary cells when compared with COS cells. Modelling into the three-dimensional structure revealed that the mutants with highly reduced specific activities contained substitutions of amino acids involved in the catalysis, either co-ordinating Zn2+ (His72 and Asp196), stabilizing the active-site nucleophile (Arg220) or positioning the active-site residue Asp319 (Phe320). (+info)
Alpha-mannosidosis - Wikipedia
alpha-Mannosidosis Mutation Database - Home
Alpha-Mannosidosis Global Clinical Trials Review, H2, 2016 : ReportsnReports
alpha-Mannosidosis Mutation Database - Mutations
Oligosaccharide Screen, Urine - Wyoming Medical Center
Genetic Therapy Reverses Nervous System Damage in Animal Model of Inherited Human Disease
Salers cattle - Wikipedia
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Alpha-mannosidosis
... entry on Alpha-Mannosidosis OMIM entries on Alpha-Mannosidosis Alpha-mannosidosis type 1 at NIH's Office of Rare Diseases Alpha ... Alpha-Mannosidosis Mutation Database. Tromsoe University. Available at: [1]. Alpha Mannosidosis. National Organization for Rare ... In livestock alpha-mannosidosis is caused by chronic poisoning with swainsonine from locoweed. Alpha-mannosidosis is a lifelong ... "Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis ...
Velmanase alfa
... is a medication for the treatment of alpha-mannosidosis. Velmanase alfa is a recombinant form of human alpha-mannosidase. ... Malm D, Nilssen Ø (July 2019) [October 2001]. "Alpha-Mannosidosis". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, ... alpha-Mannosidase at the US National Library of Medicine Medical Subject Headings (MeSH) Portal: Medicine v t e (Use American ...
Alpha-Mannosidase
GeneReviews/NCBI/NIH/UW entry on Alpha-Mannosidosis OMIM entries on Alpha-Mannosidosis alpha-Mannosidase at the US National ... alpha-Mannosidase (EC 3.2.1.24, alpha-D-mannosidase, p-nitrophenyl-alpha-mannosidase, alpha-D-mannopyranosidase, 1,2-alpha- ... exo-alpha-mannosidase) is an enzyme involved in the cleavage of the alpha form of mannose. Its systematic name is alpha-D- ... Malm D, Nilssen Ø (2008). "Alpha-mannosidosis". Orphanet J Rare Dis. 3: 21. doi:10.1186/1750-1172-3-21. PMC 2515294. PMID ...
Macroglossia
... alpha-mannosidosis, Klippel-Trénaunay syndrome, cardiofaciocutaneous syndrome, Ras pathway disorders, transient neonatal ... ". "Omim - Mannosidosis, Alpha B, Lysosomal; Mansa - Omim - Ncbi". Cawson, R. A.; Odell, E. W. (2002). Cawson's essentials of ...
List of OMIM disorder codes
LMNA Mannosidosis, alpha-, types I and II; 248500; MAN2B1 Mannosidosis, beta; 248510; MANBA Maple syrup urine disease, type Ia ... RAG1 Alpha-2-plasmin inhibitor deficiency; 262850; PLI Alpha-ketoglutarate dehydrogenase deficiency; 203740; OGDH Alpha- ... NLRP3 Mucolipidosis II alpha/beta; 252500; GNPTAB Mucolipidosis III alpha/beta; 252600; GNPTAB Mucolipidosis III gamma; 252605 ... methylacetoacetic aciduria; 203750; ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia ...
Maria Luisa Escolar
... and skeletal abnormalities in children with alpha-mannosidosis. After beginning to provide clinical services for children with ... "Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients". Bone Marrow Transplant. 47 (3): 352-9. doi: ...
Swainsonine
"Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea". Journal of Veterinary Diagnostic ... Disruption of Golgi alpha-mannosidase II with swainsonine induces hybrid-type glycans. These glycans have a Man5GlcNAc2 core ... It is a potent inhibitor of Golgi alpha-mannosidase II, an immunomodulator, and a potential chemotherapy drug. As a toxin in ... Castanospermine Mannosidosis "NCATS Inxight: Drugs". drugs.ncats.io. Retrieved 2020-01-22. Stegelmeier BL, Molyneux RJ, Elbein ...
Swainsona greyana
The plant contains the alkaloid swainsonine causing alpha-mannosidosis, a risk to grazing livestock. In 2014, thousands of ...
Mannosidase
There are two types: alpha-Mannosidase beta-Mannosidase A deficiency is associated with mannosidosis. A family of mannosidases ...
Beta-mannosidosis
Beta-mannosidase Alpha-mannosidosis "Mannosidosis, beta A, lysosomal , Genetic and Rare Diseases Information Center (GARD) - an ... via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis. In terms of beta-mannosidosis treatment ... Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth, and can have a ... "beta-mannosidosis". Genetics Home Reference. Retrieved 2017-07-13. Enns, Gregory M.; Steiner, Robert D.; Cowan, Tina M. (2009 ...
Mannosidosis
... is a deficiency in mannosidase, an enzyme. There are two types: Alpha-mannosidosis Beta-mannosidosis Swainsonine ... Mannosidosis at the US National Library of Medicine Medical Subject Headings (MeSH) v t e (All stub articles, Disease stubs, ...
Persian cat
... alpha-mannosidosis Neoplastic - basal-cell carcinoma, sebaceous gland tumours Excessive tearing Eye condition such as cherry ...
Lysosomal storage disease
Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ... gangliosidoses Alpha-galactosidase Fabry disease (alpha-galactosidase A) Schindler disease (alpha-galactosidase B) Beta- ... Mannosidosis Molecular chaperone therapy Platt, Frances M.; d'Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; ...
List of MeSH codes (C18)
... alpha-mannosidosis MeSH C18.452.648.202.607.750 - beta-mannosidosis MeSH C18.452.648.202.670 - mucolipidoses MeSH C18.452. ... alpha-mannosidosis MeSH C18.452.648.595.577.750 - beta-mannosidosis MeSH C18.452.648.595.600 - mucopolysaccharidoses MeSH ...
List of MeSH codes (C16)
... alpha-mannosidosis MeSH C16.320.565.202.607.750 - beta-mannosidosis MeSH C16.320.565.202.670 - mucolipidoses MeSH C16.320. ... alpha-mannosidosis MeSH C16.320.565.580.577.750 - beta-mannosidosis MeSH C16.320.565.580.600 - mucopolysaccharidoses MeSH ... alpha-thalassemia MeSH C16.320.070.875.150 - beta-thalassemia MeSH C16.320.077.090 - anemia, Diamond-Blackfan MeSH C16.320. ... alpha-thalassemia MeSH C16.320.365.826.100.350 - hydrops fetalis MeSH C16.320.365.826.150 - beta-thalassemia MeSH C16.320. ...
AMD (disambiguation)
... a daemon on Unix-like operating systems Alpha-mannosidosis, a lysosomal storage disorder Aircraft Manufacturing and Design ...
List of conditions treated with hematopoietic stem cell transplantation
Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis Other Wolman disease (acid lipase deficiency) Immunodeficiencies T-cell ...
Coarse facial features
Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Börjeson-Forssman-Lehmann syndrome ... alpha B lysosomal) McCune-Albright syndrome Mental retardation (X-linked - epilepsy - progressive joint contractures - typical ... Immunodeficiency due to defect in MAPBP-interacting protein Infantile sialic acid storage disorder Job syndrome Mannosidosis ( ...
Glycoside hydrolase family 38
... and can cleave all known types of alpha-mannosidic linkages. Defects in the gene cause lysosomal alpha-mannosidosis (AM), a ... The enzyme catalyzes the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides, ... A domain, which is found in the central region adopts a structure consisting of three alpha helices, in an immunoglobulin/ ... The domain is predominantly found in the enzyme alpha-mannosidase. Henrissat B, Callebaut I, Fabrega S, Lehn P, Mornon JP, ...
Locoweed
... develop a lysosomal storage disease similar to genetic mannosidosis. Swainsonine inhibits a lysosomal enzyme, alpha-mannosidase ... Stegelmeier BL, Ralphs MH, Gardner DR, Molyneux RJ, James LF (October 1994). "Serum alpha-mannosidase activity and the ... As the estimated intake of swainsonine increased, blood serum alpha-mannosidase activity and albumin decreased, and alkaline ... and analyzing blood serum for alpha-mannosidase activity and swainsonine. In mule deer, clinical signs of locoism are similar ...
List of diseases (A)
Alpha-ketoglutarate dehydrogenase deficiency Alpha-L-iduronidase deficiency Alpha-mannosidosis Alpha-sarcoglycanopathy Alpha- ... thalassemia Alpha thalassemia abnormal morphogenesis Alpha-thalassemia mental retardation syndrome Alport syndrome Alport ... totalis Alopecia universalis Alopecia universalis onychodystrophy vitiligo Alpers disease Alpha 1-antitrypsin deficiency Alpha- ...
Schindler disease
This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), ... International Society for Mannosidosis & Related Diseases, ISMRD). Retrieved 2008-11-13. "Schindler Disease". National ... A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of ... Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in ...
List of diseases (M)
... genetic types Mannosidosis Manouvrier syndrome Mansonelliasis Mantle cell lymphoma Marashi-Gorlin syndrome Marburg fever ... Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency Male pseudohermaphroditism due to 5-alpha- ...
Alpha-mannosidosis: MedlinePlus Genetics
Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Explore symptoms, ... medlineplus.gov/genetics/condition/alpha-mannosidosis/ Alpha-mannosidosis. ... Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase ... Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. Biochem J. 2004 Jul 15;381 ...
alpha-Mannosidosis Mutation Database - Mutations
alpha-mannosidosis | Science Over a Cuppa
Alpha-mannosidosis Forum: the discussions on Carenity
Alpha-mannosidosis - Summarized by Plex.page | Health | Summarization
Alpha-mannosidosis is a rare inherited disorder that causes issues in many body organs and tissues of the body. Affected ... The symptoms and signs of alpha-mannosidosis can range from mild to extreme. People with this early-onset type of alpha- ... Alpha-mannosidosis is a rare inherited disorder that causes issues in many body organs and tissues of the body. Affected ... Other people with alpha-mannosidosis experience milder signs and symptoms that show up later and advance more gradually. People ...
Skeletal Dysplasia Clinical Presentation: History, Physical, Causes
Hansen, Gaute Martin | UiT
alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected ... Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants Biochemical Journal 2004 ... Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow ... Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations ...
Press Release/ Social Security Announces New Conditions for Compassionate Allowances Program - Government / B2G - Social...
MANN - Overview: Alpha-Mannosidase, Leukocytes
Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis. ... Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase ... Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase ... Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase ...
Metachromatic leukodystrophy
Additional Experiments
Alpha-Mannosidase B Deficiency Archives - Alex - The Leukodystrophy Charity
SMORL » MENA RARE DISEASE ACADEMY
RARE DISEASE ACADEMY: ALPHA MANNOSIDOSIS in Middle East. RARE DISEASE ACADEMY: Nephropathic Cystinosis in Middle East. ... The Intermeeting society and CME Provider are organizing a RARE DISEASE ACADEMY: Alpha Mannosidosis in Middle East, an ... The Intermeeting society and CME Provider are organizing a RARE DISEASE ACADEMY: Alpha Mannosidosis in ...
DeCS 2004 - Changed terms
CDC/NIH Web Information Database|Home|PHGKB
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
DeCS
alpha-Mannosidosis Entry term(s). Alpha-D-Mannosidosis Alpha-Mannosidase B Deficiency Alpha-Mannosidosis, Type I Deficiencies, ... Mannosidosis, alpha B, Lysosomal alpha Mannosidase B Deficiency alpha Mannosidase Deficiency alpha Mannosidosis alpha-D- ... Mannosidosis, alpha B, Lysosomal. alpha Mannosidase B Deficiency. alpha Mannosidase Deficiency. alpha Mannosidosis. alpha-D- ... alpha-Mannosidose Entry term(s):. Alpha-D-Mannosidosis. Alpha-Mannosidase B Deficiency. Alpha-Mannosidosis, Type I. ...
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
DeCS 2004 - Changed terms
MutationsAutosomal recessiveEarly-onsetABNORMALITIESClinicalGeneticsFiftiesGeneDisorderMildSymptomsDiseasesEnzymeCarrierExperienceReferencesApproximatelyPeopleResultCommonResultsLYSOSOMALAcid alpha-mannosidase2021MucopolysaccharidosisDiagnosisGloboid2022FindingsMetabolicGeneticDiseaseScopeTreatmentChallengesForecastAccumulation of globotriaosylceramideMarket ReportOligosaccharidesShareTypeIndividualsChildren
Mutations3
- Mutations in the MAN2B1 gene cause alpha-mannosidosis. (medlineplus.gov)
- Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. (medlineplus.gov)
- Mutations in the MANBA gene cause beta-mannosidosis. (ismrd.org)
Autosomal recessive1
- Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase enzyme activity. (mayocliniclabs.com)
Early-onset2
- Individuals with this early-onset form of alpha-mannosidosis often do not survive past childhood. (medlineplus.gov)
- People with this early-onset type of alpha-mannosidosis commonly do not make it through previous youth. (plex.page)
ABNORMALITIES1
- People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). (ismrd.org)
Clinical2
- Adult alpha-mannosidosis: clinical progression in the absence of demyelination. (medlineplus.gov)
- Moreover, Chiesi continued in its effort with the acquisition of the marketing rights of Procysbi®, a delayed-release formulation of cysteamine, for the treatment of patients affected by nephropathic cystinosis, and pegunigalsidase alfa, or CHF 6657, a chemically modified version of the recombinant protein alpha-Galactosidase-A, currently in phase III clinical trials for the treatment of Fabry disease. (chiesipharma.se)
Genetics1
- Technical information about the genetics of Beta-Mannosidosis. (ismrd.org)
Fifties1
- People with later-onset alpha-mannosidosis may survive into their fifties. (medlineplus.gov)
Gene1
- This gene provides instructions for making the enzyme alpha-mannosidase. (medlineplus.gov)
Disorder2
- Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. (medlineplus.gov)
- Beta-mannosidosis is believed to be a very rare disorder. (ismrd.org)
Mild4
- The signs and symptoms of alpha-mannosidosis can range from mild to severe. (medlineplus.gov)
- The symptoms and signs of alpha-mannosidosis can range from mild to extreme. (plex.page)
- It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed. (ismrd.org)
- On the orphan drug side, The CHMP positively assessed the long-term enzyme replacement therapy velmanase alfa (brand name: Lamzede), developed by Chiesi Farmaceutica to treat patients with mild to moderate forms of alpha-mannosidosis . (european-biotechnology.com)
Symptoms3
- Other individuals with alpha-mannosidosis experience milder signs and symptoms that appear later and progress more slowly. (medlineplus.gov)
- Other people with alpha-mannosidosis experience milder signs and symptoms that show up later and advance more gradually. (plex.page)
- Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. (ismrd.org)
Diseases1
- As the pivotal study involved only 25 patients and alpha-mannosidosis is very rare, the CHMP recommended market approval under exceptional circumstances, that is it doesn't expect Chiesi to table the same evidence for efficacy than for more common diseases. (european-biotechnology.com)
Enzyme1
- Lamzede®, an enzyme replacement therapy for the treatment of alpha-mannosidosis, an ultra-orphan disease for which no alternative approved treatment exist, was recently introduced in several European markets. (chiesipharma.se)
Carrier1
- This test is not useful for establishing carrier status for alpha-mannosidosis. (mayocliniclabs.com)
Experience1
- Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. (ismrd.org)
References1
- This is an excellent description of Beta-Mannosidosis with many references to other information and resources. (ismrd.org)
Approximately1
- Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide. (medlineplus.gov)
People1
- What other names do people use for Beta-Mannosidosis? (ismrd.org)
Result1
- Determining enzymatic activity is the next step of the diagnostic workup for an individual clinically suspicious for an oligosaccharidosis with a positive screening result suggestive of alpha-mannosidosis. (mayocliniclabs.com)
Common1
- How Common is Beta-Mannosidosis? (ismrd.org)
Results1
- An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. (bvsalud.org)
LYSOSOMAL7
- The alpha mannosidosis market consists of sales of therapies for alpha mannosidosis (organizations, sole traders and partnerships) that provides treatment for alpha mannosidosis, which is a lysosomal storage disorder. (siliconvalleylivenews.com)
- LAMZEDE is recombinant human lysosomal alpha-mannosidase indicated for the treatment of non-central nervous system manifestations of alpha-mannosidosis in adult and pediatric patients. (nih.gov)
- An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. (nih.gov)
- Based on a scientific breakthrough by researchers Stuart Kornfeld and Lin Liu in 2017, we successfully created a technology platform to regulate the M6P levels on lysosomal enzymes, allowing us to potentially treat even LSDs where the required enzymes have naturally low M6P levels, such as mucopolysaccaridosis IIIB (MPS IIIB) and alpha-mannosidosis. (m6ptherapeutics.com)
- LAMAN: lysosomal acid alpha-mannosidase for alpha-mannosidosis. (m6ptherapeutics.com)
- An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. (lookformedical.com)
- The cause of FD is a variety of mutations in the GLA gene on the X chromosome (Xq22.1), resulting in a deficiency of the lysosomal enzyme alpha-galactosidase A (AGAL). (skintherapyletter.com)
Acid alpha-mannosidase2
- The diagnosis of alpha-mannosidosis is established in a proband by identification of deficient acid alpha-mannosidase enzyme activity in peripheral blood leukocytes or other nucleated cells such as fibroblasts. (nih.gov)
- Prenatal testing for a pregnancy at increased risk is possible by assay of acid alpha-mannosidase enzymatic activity or molecular genetic testing once the pathogenic variants have been identified in the family. (nih.gov)
20213
- Alpha Mannosidosis Global Market Report 2021 is one of a series of new reports from The Business Research Company that provides alpha mannosidosis global market overviews, analyzes and forecasts market size and growth for the global alpha mannosidosis global market, alpha mannosidosis global market share, alpha mannosidosis global market players, alpha mannosidosis global market segments and geographies, alpha mannosidosis global market's leading competitors' revenues, profiles and market shares. (siliconvalleylivenews.com)
- According to our (Global Info Research) latest study, due to COVID-19 pandemic, the global Alpha Mannosidosis market size is estimated to be worth US$ 5 million in 2021 and is forecast to a readjusted size of USD 16 million by 2028 with a CAGR of 18.2% during review period. (decisionmarketreports.com)
- Hospitals accounting for % of the Alpha Mannosidosis global market in 2021, is projected to value USD million by 2028, growing at a % CAGR in next six years. (decisionmarketreports.com)
Mucopolysaccharidosis1
- Gaucher disease, mucopolysaccharidosis VII, and alpha-mannosidosis are examples of a subset of LSD patients that are predisposed towards immune suppression. (nih.gov)
Diagnosis1
- A diagnosis of Alpha Mannosidosis can have a considerable emotional impact on patients and caregivers. (alphamannosidosis.com)
Globoid1
- The large size of our animal models also allows us to identify and validate biochemical, electrodiagnostic, and imageable surrogate markers of disease, as has been done with alpha-mannosidosis, globoid cell leukodystrophy, and Niemann-Pick disease type C1. (nih.gov)
20221
- Chapter 2, to profile the top players of Alpha Mannosidosis, with revenue, gross margin and global market share of Alpha Mannosidosis from 2019 to 2022. (decisionmarketreports.com)
Findings3
- Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. (nih.gov)
- Alpha-mannosidosis should be suspected in individuals with the following clinical, laboratory, and pathology findings. (nih.gov)
- Chapter 11 and 12, to describe Alpha Mannosidosis research findings and conclusion, appendix and data source. (decisionmarketreports.com)
Metabolic1
- MetabERN is a network of healthcare providers and patient groups across Europe, providing support for people with inherited metabolic disorders such as Alpha Mannosidosis. (alphamannosidosis.com)
Genetic2
- Alpha-mannosidosis is a rare genetic inherited condition that affects the organs and tissues of the person suffering from the disease. (siliconvalleylivenews.com)
- I will expand on my story in a later blog post, but my story consists of being born with a super rare genetic disease called Alpha Mannosidosis and being in a pretty serious car accident in 2015 that I walked away from. (achievetheimpossibletoday.com)
Disease6
- The information on this website is intended only to provide knowledge of Alpha Mannosidosis disease health topics. (alphamannosidosis.com)
- The website has been developed in accordance with industry and legal standards to provide information for healthcare professionals and the general public about Alpha Mannosidosis disease health topics. (alphamannosidosis.com)
- The growth is mainly due to increasing prevalence of alpha mannosidosis, use of orphan drugs, fee reductions and tax credits, increasing investment in the rare disease treatment and advancements in treatment drugs. (siliconvalleylivenews.com)
- GAA: acid alpha-glucosidase for Pompe disease. (m6ptherapeutics.com)
- GLA: alpha-galactosidase A for Fabry disease. (m6ptherapeutics.com)
- I was born with a rare disease, Alpha Mannosidosis. (achievetheimpossibletoday.com)
Scope1
- Chapter 1, to describe Alpha Mannosidosis product scope, market overview, market opportunities, market driving force and market risks. (decisionmarketreports.com)
Treatment1
- The advancements in treatment for alpha mannosidosis like pharmacological therapy are gaining traction in the alpha mannosidosis market. (siliconvalleylivenews.com)
Challenges1
- You don't need to face the challenges of Alpha Mannosidosis alone. (alphamannosidosis.com)
Forecast2
- The increasing investments on research are expected to contribute to the growth of the alpha mannosidosis market in the forecast period. (siliconvalleylivenews.com)
- Acute Market Reports's latest report on the "Alpha Mannosidosis" market provides in-depth understanding of competitive analysis, 2017 to 2025 market forecast, and market trends and sizes. (mobilecomputingtoday.co.uk)
Accumulation of globotriaosylceramide1
- A lack of alpha-galactosidase activity results in the accumulation of globotriaosylceramide in cells of various systems, leading to multi-systemic effects. (skintherapyletter.com)
Market Report1
- The alpha mannosidosis global market report identifies top countries and segments for opportunities and strategies based on market trends and leading competitors' approaches. (siliconvalleylivenews.com)
Oligosaccharides2
- In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose. (medlineplus.gov)
- Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis. (medlineplus.gov)
Share2
- Among these regions, the North American alpha mannosidosis market accounts for the largest share in the global alpha mannosidosis market. (siliconvalleylivenews.com)
- Chapter 3, the Alpha Mannosidosis competitive situation, revenue and global market share of top players are analyzed emphatically by landscape contrast. (decisionmarketreports.com)
Type2
- The global alpha mannosidosis market is further segmented based on therapy type, indication, end-user and geography. (siliconvalleylivenews.com)
- Alpha Mannosidosis market is split by Type and by Application. (decisionmarketreports.com)
Individuals1
- Individuals with this early-onset form of alpha-mannosidosis often do not survive past childhood. (medlineplus.gov)
Children1
- His primary interest is in Blood and Marrow Transplantation in children including the newer techniques like Haplo-identical Transplants using alpha-beta TCR depletion techniques, for which he has the largest Asian experience. (narayanahealth.org)