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Article

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

European journal of pediatrics - 1 Nov 2003

Ries Markus, Ramaswami Uma, Parini Rossella, Lindblad Bengt, Whybra Catharina, Willers Ingrid, Gal Andreas, Beck Michael

Abstract excerpt

UNLABELLED: Fabry disease (FD) is a debilitating progressive multisystem X-linked lysosomal storage disorder. It was generally believed that the disease affects only adult males. Through systematic pedigree analysis, we identified 35 paediatric FD patients (age 1 to 21 years, mean 12.6 years) in 25 families. Predominant signs in this cohort were: acroparesthesia, hypohidrosis, and cornea verticillata....

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Identifiers

PMID: 14505049
DOI: 10.1007/s00431-003-1299-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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