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Article

Diagnosis of Fabry Disease via Analysis of Family History

2 Jan 2008

Abstract excerpt

Fabry disease is an X-linked lysosomal storage condition caused by a deficiency of alpha-galactosidase A. In order to determine the average number of family members who are diagnosed with Fabry disease following the diagnosis of a proband, four lysosomal storage disease centers across the United States reviewed the completed pedigrees of their Fabry disease patients. In addition, data from three Fabry disease...

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PMID: 18172746
DOI: 10.1007/s10897-007-9128-x

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