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Article

An unusual presentation of Gaucher's disease: aortic valve fibrosis in a patient homozygous for a rare G377S mutation.

Collegium antropologicum - 1 Mar 2010

Perić Zinaida, Kardum-Skelin Ika, Puskarić Biljana Jelić, Letilović Tomislav, Vrhovac Radovan, Jaksić Branimir

Abstract excerpt

Gaucher's disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations identified in the glucocerebrosidase gene (GBA). Nevertheless, clear genotype-phenotype correlations have been confirmed only for the most frequent mutations. We...

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PMID: 20432762

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

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