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Article

Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information.

Journal of human genetics - 1 Mar 2010

Saito Seiji, Ohno Kazuki, Sese Jun, Sugawara Kanako, Sakuraba Hitoshi

Abstract excerpt

Fabry disease is a genetic disorder caused by a deficiency of alpha-galactosidase, exhibiting a wide clinical spectrum, from the early-onset severe 'classic' form to the late-onset mild 'variant' one. Recent screening of newborns revealed that the incidence of Fabry disease is unexpectedly high,...

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Identifiers

PMID: 20139917
DOI: 10.1038/jhg.2010.5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20139917-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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