Results 251 to 260 of about 114,325,321 (319)
Properties of mouse alpha-galactosidase.
Biochimica et biophysica acta, 1976 alpha-Galactosidase has been examined in various murine tissues using the substrate 4-methylumbelliferyl-alpha-galactoside. Mouse liver appears to contain a single major form of the enzyme, as judged by chromatography and electrophoresis. The enzmye was purified 467-fold with a yield of about 40% by a method involving chromatography on Concanavalin A ...
Lusis, A J, Paigen, K
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Journal of Inherited Metabolic Disease, 2020
The identification of pathogenic GLA variants plays a central role in the establishment of a definite Fabry disease (FD) diagnosis. We aimed to review and interpret the published data on the p.Asp313Tyr (p.D313Y) variant pathogenicity and clinical ...
G. Effraimidis +4 more
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The identification of pathogenic GLA variants plays a central role in the establishment of a definite Fabry disease (FD) diagnosis. We aimed to review and interpret the published data on the p.Asp313Tyr (p.D313Y) variant pathogenicity and clinical ...
G. Effraimidis +4 more
semanticscholar +1 more source
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease
Clinical Biochemistry, 2012 OBJECTIVES: Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD).
Antonino Tuttolomondo +2 more
exaly +1 more source
Fabry's Disease: Alpha-Galactosidase Deficiency
Science, 1970The leukocytes of male patients with Fabry's disease are deficient in α-galactosidase. The α-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of β-galactosidase, β-acetylgalactosaminidase, and β-acetylglucosaminidase in the leukocytes of affected ...
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Pseudodeficiency of alpha-galactosidase A.
Clinical genetics, 1982Apparent deficiency of alpha-galactosidase A was observed in a 51-year-old, clinically healthy male, with no clinical symptoms of Fabry disease, and without excess urinary excretion of ceramide trihexoside. The deficiency, which was similar to that found in Fabry disease patients, could be demonstrated using both synthetic and natural substrates.
G, Bach +3 more
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[Microbial alpha-galactosidase (a review)].
Prikladnaia biokhimiia i mikrobiologiia, 1982The review discusses properties, distribution and potential use of microbial alpha-galactosidase (alpha-D-galactoside galactohydrolase, EC 3.2.1.22), the enzyme catalyzing degradation of alpha-D-galactoside bonds. Recent years have witnessed many publications describing microbial alpha-galactosidase which, in contrast to the similar enzyme from higher ...
I V, Ulezlo, O M, Zaprometova
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Proteins: Structure, Function, and Bioinformatics, 2015
C. Riera +6 more
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C. Riera +6 more
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