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Article

[Fabry disease: data from four families].

Nederlands tijdschrift voor geneeskunde - 9 Dec 2000

Slee P H, van Boven L J, Slee D S

Abstract excerpt

In 1988 three families were described in this journal with Fabry's disease, an X-linked recessive lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. A fourth family contained four affected men of whom one was unavailable for evaluation. The other three had the same muta...

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Identifiers

PMID: 11145098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11145098-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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