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

Collegium Antropologicum

Volumn 34, Issue 1, 2010, Pages 275-278

  Perić, Zinaida ^a   Kardum Skelin, Ika ^a,b   Puškarić, Biljana Jelić ^a   Letilović, Tomislav ^a,b   Vrhovac, Radovan ^a,b   Jakšić, Branimir ^a,b  

^a University of Zagreb   (Croatia)

^b UNIVERSITY OF ZAGREB   (Croatia)

Author keywords

Aortic valve fibrosis; G377S mutation; Gaucher's disease

Indexed keywords

GLUCOSYLCERAMIDASE;

AORTA VALVE STENOSIS; ARTICLE; BIOPSY; CASE REPORT; ECHOCARDIOGRAPHY; ECHOGRAPHY; FEMALE; GAUCHER DISEASE; GENETICS; GENOTYPE; HUMAN; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENOTYPE; POINT MUTATION;

AORTIC VALVE STENOSIS; BIOPSY; ECHOCARDIOGRAPHY; FEMALE; GAUCHER DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; PHENOTYPE; POINT MUTATION;

EID: 77952468517     PISSN: 03506134     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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