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Article

[Fabry's disease: new therapeutic options for this lysosomal storage disorder].

Der Nervenarzt - 1 Jun 2003

Grau A J, Schwaninger M, Goebel H H, Beck M

Abstract excerpt

Fabry's disease is an x-linked, recessive, lysosomal storage disorder that results from deficient alpha-galactosidase A activity with pathological sphingolipid deposition mainly in endothelium, smooth muscle cells, kidneys, central and peripheral nervous system, and myocardium. Clinical manifesta...

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Source

Identifiers

PMID: 12799787
DOI: 10.1007/s00115-003-1513-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12799787-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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