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Article

Fabry's disease: otoneurologic findings in twelve members of one family.

The Annals of otology, rhinology, and laryngology - 1 Jun 2006

Vibert Dominique, Blaser Beat, Ozdoba Christoph, Häusler Rudolf

Abstract excerpt

Fabry's disease corresponds to an inherited disorder transmitted by an X-linked recessive gene. It generates a dysfunction of glycosphingolipid metabolism due to an enzymatic deficiency of alpha-galactosidase activity, resulting in glycosphingolipid deposits in all areas of the body. The clinical (heart, kidney, and central nervous system) manifestations are more severe in hemizygous boys than in heterozygous...

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Identifiers

PMID: 16805371
DOI: 10.1177/000348940611500603

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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