Results 261 to 270 of about 114,325,321 (319)
Some of the next articles are maybe not open access.

[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].

Rinsho byori. The Japanese journal of clinical pathology, 1997
Fabry disease is characterized by a deficiency of lysosomal alpha-galactosidase (alpha-Gal) and the accumulation of glycosphingolipid (e.g. predominantly globotriaosylceramide) in various tissues, mainly in lysosomes of the vascular endothelium. This disorder is currently classified into two clinical phenotypes; classical severe type and atypical ...
T, Okumiya   +3 more
openaire   +1 more source

Alpha-galactosidase

1991
Dietmar Schomburg, Margit Salzmann
openaire   +1 more source

In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives.

European Journal of Biochemistry, 2000
N. Asano   +7 more
semanticscholar   +1 more source

Studies with plant alpha-galactosidases

1976
The two molecular forms, I and II, of [alpha]-galactosidase from immature, mature (resting) and germinated vicia faba seeds have been studied. The enzymes have been purified by a multistage procedure and, in particular, the effect these stages have upon the relative isoenzyme levels has been investigated.
openaire   +1 more source

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.

Molecular Genetics and Metabolism, 2003
R. Froissart   +4 more
semanticscholar   +1 more source

HUMAN ALPHA-GALACTOSIDASE VARIANTS

2022
HALLOWS WILLIAM CASEY   +9 more
openaire   +4 more sources

The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients.

The Quarterly journal of medicine, 1990
S. H. Morgan   +8 more
semanticscholar   +1 more source

Home - About - Disclaimer - Privacy