Fabry disease. Classic hemizygote and residual alpha-galactosidase A activity.
Pravata
G
G
Experimental Dermatology Section, Universita of Palermo, Italy.
Noto
G
G
Arico
M
M
D000328:Adult; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005915:Globosides / Q000652:urine; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D014281:Trihexosylceramides / Q000652:urine; D000519:alpha-Galactosidase / Q000378:metabolism*
D005915:Globosides; D014281:Trihexosylceramides; C024032:globotetraosylceramide; C018549:globotriaosylceramide; D000519:alpha-Galactosidase