Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease

K Itoh; T Takenaka; S Nakao; M Setoguchi; H Tanaka; T Suzuki; H Sakuraba

doi:10.1016/s0002-9149(96)00241-x

Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease

Am J Cardiol. 1996 Jul 1;78(1):116-7. doi: 10.1016/s0002-9149(96)00241-x.

Authors

K Itoh¹, T Takenaka, S Nakao, M Setoguchi, H Tanaka, T Suzuki, H Sakuraba

Affiliation

¹ Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Honkomagome, Bunkyo-ku, Japan.

PMID: 8712102
DOI: 10.1016/s0002-9149(96)00241-x

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.

Publication types

Case Reports

MeSH terms

Aged
Fabry Disease / genetics*
Fabry Disease / metabolism*
Fabry Disease / pathology
Female
Fluorescent Antibody Technique
Heterozygote
Humans
Male
Middle Aged
Myocardium / metabolism*
Myocardium / pathology
Trihexosylceramides / analysis*

Substances

Trihexosylceramides