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Article

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.

Journal of medical genetics - 1 Nov 2001

MacDermot K D, Holmes A, Miners A H

Abstract excerpt

OBJECTIVES: To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN: The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES: Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed...

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Identifiers

PMID: 11694547
DOI: 10.1136/jmg.38.11.750
PMCID: PMC1734761

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