Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease.
An immunofluorescence method was applied to detect trihexosylceramide accumulated in the cardiac tissues from a variant hemizygote and a heterozygous female with Fabry disease, the incidence of which had been suspected to be high.
Itoh
K
K
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Honkomagome, Bunkyo-ku, Japan.
Takenaka
T
T
Nakao
S
S
Setoguchi
M
M
Tanaka
H
H
Suzuki
T
T
Sakuraba
H
H
D000368:Aged; D000795:Fabry Disease / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D005260:Female; D005455:Fluorescent Antibody Technique; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism* / Q000473:pathology; D014281:Trihexosylceramides / Q000032:analysis*
D014281:Trihexosylceramides