Introduction This study aims to define the phenotypic and molecular spectrum of the two clinical forms of 尾-galactosidase (尾-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB). Methods Clinical and genetic data of 52 probands, 47 patients with ...
Tay–Sachs disease is caused by deficiency of which one of the following? A. Beta-hexosaminidase A B. Beta-hexosaminidase B C. Beta-hexosaminidase A and B D. Beta-galactosidase E. Beta-glucocerebrosidase19. In which one of the following populations is the carrier frequency of Tay–Sachs disea...
A patient with adrenoleukodystrophy and his mother, a carrier, showed an elevated ratio of very long-chain fatty acids to long-chain fatty acids and decreased beta-galactosidase activity. Other lysosomal enzyme activities were normal except for the borderline level of arylsulfatase-A activity. However...
EnglishEspañolDeutschFrançaisItalianoالعربية中文简体PolskiPortuguêsNederlandsNorskΕλληνικήРусскийTürkçeאנגלית 9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook ...
beta (beta)-carotene-cleavage enzyme beta (beta)-d-galactosidase beta (beta)-d-glucuronidase beta (beta)-D-glucuronidase deficiency beta (beta)-fetoprotein ▼Complete English Grammar Rules is now available in paperback and eBook formats. Make it yours today! Advertisement. Bad banner? Please let...
Galactosylceramide beta-galactosidase activity in leukocytes from patients with Krabbe's disease... L Svennerholm,G Häkansson,MT Vanier - 《Acta Paediatrica Scandinavica》 被引量: 84发表: 1975年 beta-Galactosidase in mucopolysaccharidoses and mucolipidoses. Deficiency of GM1 beta-galactosidase in...
Targeted Sequencing ofHEXAGene Shows Missense Substitution (p.Arg499His) in a Large Pakistani Family with Tay-Sachs Disease Tay-Sachs disease or GM2 gangliosidosis, is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside... FK Bazai,MU ...
(2000) Correction of Acid Beta-Galactosidase Deficiency in GM1 Gangliosidosis Human Fibroblasts by Retrovirus Vector-Mediated Gene Transfer: Higher Efficiency of Release and Cross-Correction by the Murine Enzyme. Hum Gene Ther, 11, 715-727.
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. BACKGROUND: Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked lysosomal storage disorder that can cause early death from renal, cardiac,... Maryam Banikazemi, Jan Bultas, Stephen Waldek, William R. ...
First, the majority of human adults are incapable of digesting it owing to the deficiency of the hydrolytic enzyme betagalactosidase and thus it is a health and nutritional problem; second, it is the main reason for the sandy texture of frozen food items and crystallization related problems in ...