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3,124 Possible Causes for Disorders,, Enzyme, Lysosomal

  • Mucopolysaccharidosis

    BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase.[] MAIN OUTCOME MEASURE: Enzymatic diagnosis of a lysosomal storage disorder. RESULTS: Twenty-seven different lysosomal storage disorders were diagnosed in 545 individuals.[] The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs).[]

  • Mucolipidosis

    UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase tags newly synthesized lysosomal enzymes with mannose 6-phosphate recognition markers, which are required for their[] Thus, in MLIV the lysosomal pH is lower than normal.[] Developmental Neuropathology Chapter 27.1: Disorders of Carbohydrate Metabolism: Lysosomal Disorders Catabolic pathways : lysosomal storage disorders, e.g., mucopolysaccharidoses[]

  • Fabry Disease

    This review focuses on the use of enzyme replacement therapy with agalsidase-alfa and agalsidase-beta in adults with Fabry nephropathy.[] In both families, the risk for other lysosomal disorders was known from other members affected by fucosidosis or mucopolysaccharidosis I Hurler/Scheie.[] […] disorders; lysosome-associated protein 1; lysosome-associated protein 2; peripheral blood mononuclear cells; α-galactosidase A; α-galactosidase A gene; α–GAL[]

  • Glycogen Storage Disease Type 2

    In patients in whom GAA is not produced, a status called cross-reacting immunologic material (CRIM)–negative, enzyme-replacement therapy with recombinant human GAA (rhGAA)[] […] family-based testing after proband identification, or carrier testing in at-risk populations, and subsequent prenatal or postnatal testing of those who are presymptomatic for a lysosomal[] Neuromuscul Disord. 2000;10:467-71. INTERNET Leslie N, Tinkle BT. Glycogen Storage Disease Type II (Pompe Disease) 2007 Aug 31 [Updated 2013 May 9].[]

  • Storage Disease

    Abstract Enzyme replacement therapy (ERT) is the standard of care for several lysosomal storage diseases (LSDs).[] Although substrate reduction and lysosomal overload-decreasing therapies can ameliorate disease progression, the significance of lysosomal overload-independent mechanisms[] What are Lysosomal Storage Disorders?[]

  • Fucosidosis

    From this study it appears that beta-D-glucosidase sediments totally, whereas the other enzymes show varying residual activity in the supernatant after centrifugation.[] Fucosidosis is an autosomal recessive lysosomal storage disorder caused by the deficiency of alpha-L-fucosidase.[] Introduction The disorder belongs to a group of diseases known as lysosomal storage disorders.[]

  • Gaucher Disease

    […] treated with enzyme replacement therapy.[] In the lysosomal storage disorder Gaucher disease (GD), glucosylceramide (GlcCer) accumulates due to the defective activity of glucocerebrosidase.[] disorders.[]

  • Mucopolysaccharidosis 2

    In order to evaluate enzyme-replacement therapy for MPS II we have expressed a chimaeric I2S cDNA in CHO (Chinese-hamster ovary)-K1 cells utilizing a plasmid vector that places[] The disorder occurs in approximately 1 in 100,000 to 1 in 170,000 male births.[] Mucopolysaccharidosis type II is an X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate sulfatase.[]

  • Pseudo-Hurler Polydystrophy

    […] of a subset of lysosomal enzymes.6.[] In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:472-3. Scriver CR, et al., eds.[] Cultured skin fibroblast cells from three of these four patients were low in each of the five lysosomal enzyme activities measured.[]

  • Wolman Disease

    The enzyme deficient in Wolman disease is? A. Alpha galactosidase A B. Aryl sulphatase A C. Galactosylceramidase D. Acid lipase Correct answer: D.[] Mutations in the LIPA gene cause lysosomal acid lipase deficiency . The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase.[] Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical[]