title: Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Honkomagome, Bunkyo-ku, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: T
authors.initials: T
authors.lastname: Takenaka
authors.forename: S
authors.initials: S
authors.lastname: Nakao
authors.forename: M
authors.initials: M
authors.lastname: Setoguchi
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: 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*
chemical_list: D014281:Trihexosylceramides