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Article

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.

Human genetics - 1 Aug 2005

Matsuzawa Fumiko, Aikawa Sei-ichi, Doi Hirofumi, Okumiya Toshika, Sakuraba Hitoshi

Abstract excerpt

Fabry disease comprises classic and variant phenotypes. The former needs early enzyme replacement therapy, and galactose infusion is effective for some variant cases. Attempts of early diagnosis before manifestations appear will begin in the near future. However, it is difficult to predict the ph...

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Identifiers

PMID: 15924232
DOI: 10.1007/s00439-005-1300-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15924232-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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