Carbohydrate Metabolism, Inborn Errorsalpha-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.Mannosidases: Glycoside hydrolases that catalyze the hydrolysis of alpha or beta linked MANNOSE.DisaccharidasesMannose: A hexose or fermentable monosaccharide and isomer of glucose from manna, the ash Fraxinus ornus and related plants. (From Grant & Hackh's Chemical Dictionary, 5th ed & Random House Unabridged Dictionary, 2d ed)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: An indolizidine alkaloid from the plant Swainsona canescens that is a potent alpha-mannosidase inhibitor. Swainsonine also exhibits antimetastatic, antiproliferative, and immunomodulatory activity.Cat Diseases: Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used.Cattle Diseases: Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.Oligosaccharides: Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. They are found throughout nature in both the free and bound form.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: A trace element that is a component of vitamin B12. It has the atomic symbol Co, atomic number 27, and atomic weight 58.93. It is used in nuclear weapons, alloys, and pigments. Deficiency in animals leads to anemia; its excess in humans can lead to erythrocytosis.Chromatography, Thin Layer: Chromatography on thin layers of adsorbents rather than in columns. The adsorbent can be alumina, silica gel, silicates, charcoals, or cellulose. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)Edetic Acid: A chelating agent that sequesters a variety of polyvalent cations such as CALCIUM. It is used in pharmaceutical manufacturing and as a food additive.Isoelectric Focusing: Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.Cattle: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.Interleukin-1beta: An interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein. Proteolytic processing of the precursor form by CASPASE 1 results in release of the active form of interleukin-1beta from the membrane.beta 2-Microglobulin: An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.Receptors, Adrenergic, beta: One of two major pharmacologically defined classes of adrenergic receptors. The beta adrenergic receptors play an important role in regulating CARDIAC MUSCLE contraction, SMOOTH MUSCLE relaxation, and GLYCOGENOLYSIS.Integrin beta3: An integrin beta subunit of approximately 85-kDa in size which has been found in INTEGRIN ALPHAIIB-containing and INTEGRIN ALPHAV-containing heterodimers. Integrin beta3 occurs as three alternatively spliced isoforms, designated beta3A-C.Transforming Growth Factor beta: A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.Integrin alpha5beta1: An integrin found in FIBROBLASTS; PLATELETS; MONOCYTES, and LYMPHOCYTES. Integrin alpha5beta1 is the classical receptor for FIBRONECTIN, but it also functions as a receptor for LAMININ and several other EXTRACELLULAR MATRIX PROTEINS.Integrin beta4: Also known as CD104 antigen, this protein is distinguished from other beta integrins by its relatively long cytoplasmic domain (approximately 1000 amino acids vs. approximately 50). Five alternatively spliced isoforms have been described.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 beta Chains: Integrin beta chains combine with integrin alpha chains to form heterodimeric cell surface receptors. Integrins have traditionally been classified into functional groups based on the identity of one of three beta chains present in the heterodimer. The beta chain is necessary and sufficient for integrin-dependent signaling. Its short cytoplasmic tail contains sequences critical for inside-out signaling.beta 2-Glycoprotein I: A 44-kDa highly glycosylated plasma protein that binds phospholipids including CARDIOLIPIN; APOLIPOPROTEIN E RECEPTOR; membrane phospholipids, and other anionic phospholipid-containing moieties. It plays a role in coagulation and apoptotic processes. Formerly known as apolipoprotein H, it is an autoantigen in patients with ANTIPHOSPHOLIPID ANTIBODIES.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.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, beta-2: A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). The adrenergic beta-2 receptors are more sensitive to EPINEPHRINE than to NOREPINEPHRINE and have a high affinity for the agonist TERBUTALINE. They are widespread, with clinically important roles in SKELETAL MUSCLE; LIVER; and vascular, bronchial, gastrointestinal, and genitourinary SMOOTH MUSCLE.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.Interleukin-1: A soluble factor produced by MONOCYTES; MACROPHAGES, and other cells which activates T-lymphocytes and potentiates their response to mitogens or antigens. Interleukin-1 is a general term refers to either of the two distinct proteins, INTERLEUKIN-1ALPHA and INTERLEUKIN-1BETA. The biological effects of IL-1 include the ability to replace macrophage requirements for T-cell activation.Antigens, CD29: Integrin beta-1 chains which are expressed as heterodimers that are noncovalently associated with specific alpha-chains of the CD49 family (CD49a-f). CD29 is expressed on resting and activated leukocytes and is a marker for all of the very late activation antigens on cells. (from: Barclay et al., The Leukocyte Antigen FactsBook, 1993, p164)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.Receptors, Adrenergic, beta-1: A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). The adrenergic beta-1 receptors are equally sensitive to EPINEPHRINE and NOREPINEPHRINE and bind the agonist DOBUTAMINE and the antagonist METOPROLOL with high affinity. They are found in the HEART, juxtaglomerular cells, and in the central and peripheral nervous systems.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.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Glycogen Synthase Kinase 3: A glycogen synthase kinase that was originally described as a key enzyme involved in glycogen metabolism. It regulates a diverse array of functions such as CELL DIVISION, microtubule function and APOPTOSIS.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Estrogen Receptor beta: One of the ESTROGEN RECEPTORS that has greater affinity for ISOFLAVONES than ESTROGEN RECEPTOR ALPHA does. There is great sequence homology with ER alpha in the DNA-binding domain but not in the ligand binding and hinge domains.Transforming Growth Factor beta1: A subtype of transforming growth factor beta that is synthesized by a wide variety of cells. It is synthesized as a precursor molecule that is cleaved to form mature TGF-beta 1 and TGF-beta1 latency-associated peptide. The association of the cleavage products results in the formation a latent protein which must be activated to bind its receptor. Defects in the gene that encodes TGF-beta1 are the cause of CAMURATI-ENGELMANN SYNDROME.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.Glucosylceramidase: A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45.beta-Glucosidase: An exocellulase with specificity for a variety of beta-D-glycoside substrates. It catalyzes the hydrolysis of terminal non-reducing residues in beta-D-glucosides with release of GLUCOSE.Lysosomal Storage Diseases: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.Glucosidases: Enzymes that hydrolyze O-glucosyl-compounds. (Enzyme Nomenclature, 1992) EC 3.2.1.-.Glucosylceramides: Cerebrosides which contain as their polar head group a glucose moiety bound in glycosidic linkage to the hydroxyl group of ceramides. Their accumulation in tissue, due to a defect in beta-glucosidase, is the cause of Gaucher's disease.Metabolic Diseases: Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)Sphingolipidoses: A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.Mucolipidoses: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)Mucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.Transient Receptor Potential Channels: A broad group of eukaryotic six-transmembrane cation channels that are classified by sequence homology because their functional involvement with SENSATION is varied. They have only weak voltage sensitivity and ion selectivity. They are named after a DROSOPHILA mutant that displayed transient receptor potentials in response to light. A 25-amino-acid motif containing a TRP box (EWKFAR) just C-terminal to S6 is found in TRPC, TRPV and TRPM subgroups. ANKYRIN repeats are found in TRPC, TRPV & TRPN subgroups. Some are functionally associated with TYROSINE KINASE or TYPE C PHOSPHOLIPASES.Aggression: Behavior which may be manifested by destructive and attacking action which is verbal or physical, by covert attitudes of hostility or by obstructionism.Drug-Related Side Effects and Adverse Reactions: Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals.Diagnostic Techniques and Procedures: Methods, procedures, and tests performed to diagnose disease, disordered function, or disability.Abbreviations as Topic: Shortened forms of written words or phrases used for brevity.Review Literature as Topic: Published materials which provide an examination of recent or current literature. Review articles can cover a wide range of subject matter at various levels of completeness and comprehensiveness based on analyses of literature that may include research findings. The review may reflect the state of the art. It also includes reviews as a literary form.Infant, Newborn: An infant during the first month after birth.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.ItalyHistory of NursingSequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Fabry Disease: 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.Angiokeratoma: A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.alpha-N-Acetylgalactosaminidase: A hexosaminidase with specificity for terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides.Trihexosylceramides: Glycosphingolipids which contain as their polar head group a trisaccharide (galactose-galactose-glucose) moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in ceramide trihexosidase, is the cause of angiokeratoma corporis diffusum (FABRY DISEASE).PubMed: A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.BooksPublishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.MEDLINE: The premier bibliographic database of the NATIONAL LIBRARY OF MEDICINE. MEDLINE® (MEDLARS Online) is the primary subset of PUBMED and can be searched on NLM's Web site in PubMed or the NLM Gateway. MEDLINE references are indexed with MEDICAL SUBJECT HEADINGS (MeSH).Neuroaxonal Dystrophies: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Ipomoea: A plant genus in the family CONVOLVULACEAE best known for morning glories (a common name also used with CONVOLVULUS) and sweet potato.Lysosomal Storage Diseases, Nervous System: A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.Congenital Disorders of Glycosylation: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.Wyomingbeta-Mannosidosis: An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests itself with variety of symptoms that depend upon the type of gene mutation.Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Glutathione Transferase: A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Meglutol: An antilipemic agent which lowers cholesterol, triglycerides, serum beta-lipoproteins and phospholipids. It acts by interfering with the enzymatic steps involved in the conversion of acetate to hydroxymethylglutaryl coenzyme A as well as inhibiting the activity of HYDROXYMETHYLGLUTARYL COA REDUCTASES which is the rate limiting enzyme in the biosynthesis of cholesterol.Oxo-Acid-Lyases: Enzymes that catalyze the cleavage of a carbon-carbon bond of a 3-hydroxy acid. (Dorland, 28th ed) EC 4.1.3.Information Centers: Facilities for collecting and organizing information. They may be specialized by subject field, type of source material, persons served, location, or type of services.GlutaratesNational Health Planning Information Center (U.S.): A center in the HEALTH RESOURCES ADMINISTRATION Division of Planning Methods and Technology which provides access to current information on health planning and resources development.MichiganMucopolysaccharidosis III: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.Research: Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)Mucopolysaccharidosis II: Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Iduronate Sulfatase: An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13.Patents as Topic: Exclusive legal rights or privileges applied to inventions, plants, etc.Farnesyltranstransferase: An enzyme that catalyzes the synthesis of geranylgeranyl diphosphate from trans, trans-farnesyl diphosphate and isopentenyl diphosphate.Illusions: The misinterpretation of a real external, sensory experience.Alkyl and Aryl Transferases: A somewhat heterogeneous class of enzymes that catalyze the transfer of alkyl or related groups (excluding methyl groups). EC 2.5.TDP-43 Proteinopathies: Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.Aspartylglucosaminuria: A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.Fucosidosis: An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
The relationship between beta-mannosidase and endo-beta-mannanase activities in tomato seeds during and following germination: a comparison of seed populations and individual seeds. (1/3)
beta-Mannosidase and endo-beta-mannanase are involved in the mobilization of the mannan-containing cell walls of the tomato seed endosperm. The activities of both enzymes increase in a similar temporal manner in the micropylar and lateral endosperm during and following germination. This increase in enzyme activities in the micropylar endosperm is not markedly reduced in seeds imbibed in abscisic acid although, in the lateral endosperm, endo-beta-mannanase activity is more suppressed by this inhibitor than is the activity of beta-mannosidase. Gibberellin-deficient (gib-1) mutants of tomato do not germinate unless imbibed in gibberellin; low beta-mannosidase activity, and no endo-beta-mannanase activity is present in seeds imbibed in water, but both enzymes increase strongly in activity in the seeds imbibed in the growth regulator. For production of full activity of both beta-mannosidase and endo-beta-mannanase in the endosperm, this tissue must be in contact with the embryo for at least the first 6 h of imbibition, which is indicative of a stimulus diffusing from the embryo to the endosperm during this time. These results suggest some correlation between the activities of beta-mannosidase and endo-beta-mannanase, particularly in the micropylar endosperm, in populations of tomato seeds imbibed in water, abscisic acid and gibberellin. However, when individual micropylar endosperm parts are used to examine the effect of the growth regulators and of imbibition in water on the production of the two enzymes, it is apparent that within these individual seed parts there may be large differences in the amount of enzyme activity present. Micropylar endosperms with high endo-beta-mannanase activity do not necessarily have high beta-mannosidase activity, and vice versa, which is indicative of a lack of co-ordination of the activities of these two enzymes within individuals of a population. (+info)Beta-mannosidosis mice: a model for the human lysosomal storage disease. (2/3)
Beta-mannosidase, a lysosomal enzyme which acts exclusively at the last step of oligosaccharide catabolism in glycoprotein degradation, functions to cleave the unique beta-linked mannose sugar found in all N-linked oligosaccharides of glycoproteins. Deficiency of this enzyme results in beta-mannosidosis, a lysosomal storage disease characterized by the cellular accumulation of small oligosaccharides. In human beta-mannosidosis, the clinical presentation is variable and can be mild, even when caused by functionally null mutations. In contrast, two existing ruminant animal models have disease that is consistent and severe. To further explore the molecular pathology of this disease and to investigate potential treatment strategies, we produced a beta-mannosidase knockout mouse. Homozygous mutant mice have undetectable beta-mannosidase activity. General appearance and growth of the knockout mice are similar to the wild-type littermates. At >1 year of age, these mice exhibit no dysmorphology or overt neurological problems. The mutant animals have consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. Thin-layer chromatography demonstrated an accumulation of disaccharide in epididymis and brain. This mouse model closely resembles human beta-mannosidosis and provides a useful tool for studying the phenotypic variation in different species and will facilitate the study of potential therapies for lysosomal storage diseases. (+info)A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. (3/3)
(+info)
Beta-mannosidosis
... via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis. In terms of beta-mannosidosis treatment ... Beta-mannosidase Alpha-mannosidosis "Mannosidosis, beta A, lysosomal , Genetic and Rare Diseases Information Center (GARD) - an ... Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by ... Beta-mannosidase function is consistent with: A diagnosis of beta-mannosidosis is suspected based on the persons clinical ...
Beta-mannosidase
"Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis". ... Beta-mannosidase (EC 3.2.1.25, mannanase, mannase, beta-D-mannosidase, beta-mannoside mannohydrolase, exo-beta-D-mannanase, ... Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of ... This enzyme catalyses the following chemical reaction Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D- ...
List of OMIM disorder codes
LMNA Mannosidosis, alpha-, types I and II; 248500; MAN2B1 Mannosidosis, beta; 248510; MANBA Maple syrup urine disease, type Ia ... Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, alpha-; 604131; ... NLRP3 Mucolipidosis II alpha/beta; 252500; GNPTAB Mucolipidosis III alpha/beta; 252600; GNPTAB Mucolipidosis III gamma; 252605 ... Isolated 17,20-lyase deficiency; 202110; CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1 17-beta- ...
Lysosomal storage disease
Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ... Locoweed Mannosidosis Molecular chaperone therapy Winchester B, Vellodi A, Young E (2000). "The molecular basis of lysosomal ... Beta-galactosidase / GM1 gangliosidosis Infantile Juvenile Adult / chronic GM2 gangliosidosis AB variant Activator deficiency ...
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 ... beta-thalassemia MeSH C16.320.077.090 --- anemia, diamond-blackfan MeSH C16.320.077.280 --- fanconi anemia MeSH C16.320.099.037 ... beta-thalassemia MeSH C16.320.400.024 --- alexander disease MeSH C16.320.400.050 --- amyloid neuropathies, familial MeSH ...
List of diseases (B)
... deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia major anemia Beta- ... psychotic disorder Bright's disease Brittle bone disease Brittle bone syndrome lethal type Brittle cornea syndrome Broad beta ...
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). ...
Mannosidase
There are two types: alpha-Mannosidase beta-Mannosidase A deficiency is associated with mannosidosis. A family of mannosidases ...
List of diseases (M)
... genetic types Mannosidosis Manouvrier syndrome Mansonelliasis Mantle cell lymphoma Marashi-Gorlin syndrome Marburg fever ... Myoshi type Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency Muscular dystrophy limb-girdle with delta- ... wasting renal Major depressive disorder Mal de debarquement Malakoplakia Malaria Male pseudohermaphroditism due to 17-beta- ...
ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases
... functional Hyperplasia of pancreatic islet beta cells NOS Posthypoglycaemic coma encephalopathy (E16.2) Hypoglycaemia, ... Defects in glycoprotein degradation Aspartylglucosaminuria Fucosidosis Mannosidosis Sialidosis (mucolipidosis I) (E77.8) Other ...
Reactome | MANBA hydrolyses GlcNAc:Man
Michigan State University: Margaret Z. Jones, M.D | Cure Kirby
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Schindler disease, type 1
Condition Summary: Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis ...
http://www.diseaseinfosearch.org/Schindler+disease%2C+type+1/6437
Beta-mannosidosis | definition of beta-mannosidosis by Medical dictionary
... beta-mannosidosis explanation free. What is beta-mannosidosis? Meaning of beta-mannosidosis medical term. What does beta- ... Looking for online definition of beta-mannosidosis in the Medical Dictionary? ... Beta-mannosidosis , definition of beta-mannosidosis by Medical dictionary https://medical-dictionary.thefreedictionary.com/beta ... medical-dictionary.thefreedictionary.com/beta-mannosidosis,beta-mannosidosis,/a,. *Facebook ...
http://medical-dictionary.thefreedictionary.com/beta-mannosidosisBeta-mannosidosis - Wikipedia
... via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis. In terms of beta-mannosidosis treatment ... Beta-mannosidase Alpha-mannosidosis "Mannosidosis, beta A, lysosomal , Genetic and Rare Diseases Information Center (GARD) - an ... Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by ... Beta-mannosidase function is consistent with: A diagnosis of beta-mannosidosis is suspected based on the persons clinical ...
https://en.wikipedia.org/wiki/Beta-mannosidosis
beta-Mannosidosis
- beta-Mannosidase Deficiency
Summary Report | CureHunter
4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests itself with variety of symptoms ... An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal ... beta Mannosidase Deficiency; beta Mannosidosis; beta-Mannosidase Deficiencies; beta-Mannosidoses; Mannosidosis, beta A, ... beta-Mannosidosis (beta-Mannosidase Deficiency). Subscribe to New Research on beta-Mannosidosis ...
http://www.curehunter.com/public/keywordSummaryD044905-beta-Mannosidosis-beta-Mannosidase-Deficiency.do
Beta-Mannosidosis; Mannosidosis, beta A, Lysosomal
Mannosidosis, beta A, Lysosomal. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several ... Beta-Mannosidosis (Mannosidosis, beta A, Lysosomal). An inborn error of metabolism marked by a defect in the lysosomal isoform ... "beta-Mannosidosis"Drugs, active principles and "beta-Mannosidosis"Medicinal plantsQuestions and answers from other usersNews ... of beta-mannosidase that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta ...
https://lookfordiagnosis.com/mesh_info.php?term=beta-Mannosidosis&lang=1
Mannosidosis, beta A, lysosomal | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Mannosidosis ... Mannosidosis, beta A, lysosomal Title Other Names:. Beta-mannosidosis; Lysosomal beta-mannosidase deficiency; Beta-mannosidase ... Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay. of varying severity and ... PubMed is a searchable database of medical literature and lists journal articles that discuss Mannosidosis, beta A, lysosomal. ...
https://rarediseases.info.nih.gov/diseases/869/mannosidosis-beta-a-lysosomal
Mannosidosis-beta (MANBA) Test Lab Cost INR 30000.00
Mannosidosis-beta (MANBA) Test Free Home Sample collection centers in Delhi Mumbai Kolkata Chennai Bangalore Hyderabad ... Cost of Mannosidosis-beta (MANBA) Test in India. Mannosidosis-beta (MANBA) Test center Link. Mannosidosis-beta (MANBA) Cost. ... Mannosidosis-beta (MANBA) Test Description. Mannosidosis-beta (MANBA) Mannosidosis-beta (MANBA) genetic dna test for Metabolic ... Mannosidosis-beta (MANBA) Test Price in Delhi. ₹ 30000.00. Mannosidosis-beta (MANBA) Test Price in Mumbai. ₹ 30000.00. ...
https://dnalabsindia.com/ngs-test-mannosidosis-beta-manba-cost-c471.htmlBeta-mannosidase deficiency | definition of beta-mannosidase deficiency by Medical dictionary
What is beta-mannosidase deficiency? Meaning of beta-mannosidase deficiency medical term. What does beta-mannosidase deficiency ... Looking for online definition of beta-mannosidase deficiency in the Medical Dictionary? beta-mannosidase deficiency explanation ... beta-mannosidosis. (redirected from beta-mannosidase deficiency) beta-mannosidosis. n.. See mannosidosis. ... beta-mannosidosis. An autosomal recessive lysosomal storage disease (OMIM:248510) of glycoprotein catabolism characterised by a ...
https://medical-dictionary.thefreedictionary.com/beta-mannosidase+deficiency
451910: Inheritest® Gene-specific Sequencing, NGS | LabCorp
Beta hemoglobinopathies, includes sickle cell disease and beta thalassemias; Beta-mannosidosis; Bloom syndrome; Canavan disease ... Beta hemoglobinopathies, includes sickle cell disease and beta thalassemias; Beta-mannosidosis; Bloom syndrome; Canavan disease ... Beta hemoglobinopathies, includes sickle cell disease and beta thalassemias; Beta-mannosidosis; Bloom syndrome; Canavan disease ...
https://www.labcorp.com/test-menu/29581/inheritest%C2%AE-gene-specific-sequencing-ngs
Genetic Brain Disorders | MedlinePlus
Genetics Home Reference: beta-mannosidosis (National Library of Medicine) * Genetics Home Reference: biotinidase deficiency ( ... Genetics Home Reference: alpha-mannosidosis (National Library of Medicine) * Genetics Home Reference: alpha-methylacyl-CoA ... Genetics Home Reference: beta-ketothiolase deficiency (National Library of Medicine) * ...
https://medlineplus.gov/geneticbraindisorders.htmlCarbohydrate Metabolism Disorders: MedlinePlus
Genetics Home Reference: alpha-mannosidosis (National Library of Medicine) * Genetics Home Reference: beta-mannosidosis ( ...
https://medlineplus.gov/carbohydratemetabolismdisorders.html
Gaucher disease | Radiology Reference Article | Radiopaedia.org
It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity ... The glucosylceramide beta (GBA) gene provides instructions for making ß-glucocerebrosidase. Mutations in the GBA gene reduce or ... alpha-mannosidosis. *aspartylglucosaminuria. *cholesteryl ester storage disease. *chronic hexosaminidase A Deficiency. * ... It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity ...
https://radiopaedia.org/articles/gaucher-disease?lang=usKrabbe disease | Radiology Reference Article | Radiopaedia.org
beta-mannosidosis. *Pompe disease. *pycnodysostosis. *Sandhoff disease. *Schindler disease. *Salla disease. *Tay-Sachs disease ...
https://radiopaedia.org/articles/krabbe-disease?lang=us
Metabolic disease - Humpath.com - Human pathology
beta-mannosidosis 29 July 2008 Definition: Beta-mannosidosis is an autosomal recessive lysosomal storage disease of ... glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. Most patients have mental retardation. ...
http://www.humpath.com/spip.php?mot43&debut_articles=110
Sialidosis (Mucolipidosis I) Workup: Laboratory Studies, Imaging Studies, Other Tests
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ...
https://emedicine.medscape.com/article/948704-workupSialidosis (Mucolipidosis I) Medication
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ...
https://emedicine.medscape.com/article/948704-medication
Aggression - RightDiagnosis.com
Beta-mannosidosis ... aggressiveness*Bilateral Occipital Polymicrogyria ... aggressive behavior*Borderline Personality Disorder ...
https://www.rightdiagnosis.com/sym/aggression.htm
Sanger Sequencing
Beta-mannosidosis : MANBA Sequencing Beta-mannosidosis : MANBA Sequencing. MANBA sequencing is a molecular test used to ... Alpha-Mannosidosis : MAN2B1 Sequencing Alpha-Mannosidosis : MAN2B1 Sequencing. MAN2B1 sequencing is a molecular test used to ... Mucolipidosis II & III Alpha/Beta : GNPTAB Sequencing Mucolipidosis II & III Alpha/Beta : GNPTAB Sequencing. GNPTAB sequencing ... is a molecular test used to identify variants in the gene associated with Mucolipidosis II & III Alpha/Beta. ...
https://greenwoodgeneticcenter.isinproduction.com/test-finder-app/sanger-sequencing
Fabry disease | DermNet NZ
... beta-mannosidosis, and sialidosis [11,12]. ...
https://dermnetnz.org/topics/fabry-diseaseAll Biochemical Tests
Beta-mannosidosis : Beta-mannosidase Enzyme Analysis Beta-mannosidosis : Beta-mannosidase Enzyme Analysis. This biochemical ... The urine oligosaccharide analysis is a semi-quantitative test useful in screening for alpha mannosidosis, beta mannosidosis, ... Gaucher Disease : Beta-glucosidase Enzyme Analysis Gaucher Disease : Beta-glucosidase Enzyme Analysis. This biochemical ... Alpha-mannosidosis : Alpha-mannosidase Enzyme Analysis Alpha-mannosidosis : Alpha-mannosidase Enzyme Analysis. This biochemical ...
https://greenwoodgeneticcenter.isinproduction.com/test-finder-app/all-biochemical-tests![Wenger DA[au] - PubMed - NCBI](data:image/png;base64,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)
Wenger DA[au] - PubMed - NCBI
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. ... Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation.. Grewal SS, Shapiro EG, Krivit ...
https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Wenger+DA%5Bau%5D&dispmax=50
L - Health Conditions - Genetics Home Reference - NIH
lysosomal beta-mannosidase deficiency, see Beta-mannosidosis. *lysosomal glycoaminoacid storage disease-angiokeratoma corporis ... lysosomal beta A mannosidosis, see Beta-mannosidosis. * ... lysosomal alpha B mannosidosis, see Alpha-mannosidosis. * ... lysosomal alpha-D-mannosidase deficiency, see Alpha-mannosidosis. * ...
https://ghr.nlm.nih.gov/condition?initial=lPollard L[au] - PubMed - NCBI
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. ...
https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Pollard+L%5Bau%5D&dispmax=50
"Biochemical and clinical response after umbilical cord blood transplan" by Troy C. Lund, Weston P. Miller et al.
CONCLUSION: Our findings suggest that hematopoietic cell transplant can correct the biochemical defect in β-mannosidosis, ... Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. ... "Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis ... CONCLUSION: Our findings suggest that hematopoietic cell transplant can correct the biochemical defect in β-mannosidosis, ...
https://jdc.jefferson.edu/neurologyfp/194/Department of Neurology Faculty Papers | Department of Neurology | Thomas Jefferson University
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. ...
https://jdc.jefferson.edu/neurologyfp/
- Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. (wikipedia.org)
- Definition: Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. (humpath.com)
- This biochemical analysis of alpha-mannosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of alpha-mannosidosis. (isinproduction.com)
- This enzyme catalyses the following chemical reaction Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides This gene encodes a member of the glycosyl hydrolase 2 family. (wikipedia.org)
- Because of its rarity, and non-specific clinical findings, beta-mannosidosis can go undiagnosed until adulthood, where it can present with intellectual disability and behavioral problems, including aggression. (wikipedia.org)
- The initial affected individual described in 1986 had a complex phenotype, and was later found to have both beta-mannosidosis and Sanfilippo syndrome. (wikipedia.org)
- Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. (nih.gov)
- CONCLUSION: Our findings suggest that hematopoietic cell transplant can correct the biochemical defect in β-mannosidosis, although preservation of the neurocognitive trajectory may be a challenge. (jefferson.edu)
- Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss , but that can manifest a wide phenotypic heterogeneity . (nih.gov)
- Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. (wikipedia.org)
- The glucosylceramide beta ( GBA ) gene provides instructions for making ß-glucocerebrosidase. (radiopaedia.org)
- MAN2B1 sequencing is a molecular test used to identify variants in the gene associated with Alpha-Mannosidosis. (isinproduction.com)
- Alpha Mannosidosis. (cryocord.com.my)
- A deficiency can lead to alpha-mannosidosis . (wikidoc.org)