| Literature DB >> 1645238 |
Y Nagao1, H Nakashima, Y Fukuhara, M Shimmoto, A Oshima, Y Ikari, Y Mori, H Sakuraba, Y Suzuki.
Abstract
A new variant form of Fabry disease with hypertrophic cardiomyopathy of late onset is reported. Two unrelated male hemizygotes of this disease first presented with signs and symptoms of cardiomyopathy after 50 years of age. Cultured lymphoblastoid cells showed significantly higher residual alpha-galactosidase A activities than in the patients with classical phenotypic expressions.Entities:
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Year: 1991 PMID： 1645238 DOI： 10.1111/j.1399-0004.1991.tb03018.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438