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Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with Mutations.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2021

Sezer Ozlem, Ceylaner Serdar

Abstract excerpt

BACKGROUND: Fabry Disease (FD, OMIM#301500) is a progressive, life-threatening, multisystemic, rare lysosomal storage disease. Today, approximately 1000 mutations are recorded in the Human Gene Mutation Database (www.hgmd.org) for GLA. Among the identified mutations, genetic variants of unknown significance (GVUS) and novel mutations cause problems in terms of diagnosis and treatment approach. METHODS: In our...

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PMID: 32640971
DOI: 10.2174/1871530320666200708135826

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