Clinical and genetic analysis of Fabry disease: report of six cases including three heterozygous females.
Nagasaki
Akari
A
Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, Japan.
Nishie
Wataru
W
Sato
Kozo
K
Oba
Ikuko
I
Noguchi
Emiko
E
Akitsu
Hideki
H
Sawamura
Daisuke
D
Shimizu
Hiroshi
H
D000328:Adult; D005091:Exons / Q000235:genetics; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D014281:Trihexosylceramides / Q000652:urine; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics*
D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase