Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation

Clinical Genetics

Volumn 59, Issue 5, 2001, Pages 360-363

  George, Roshini ^a   McMahon, J ^a   Lytle, B ^a   Clark, B ^a,b   Lichtin, A ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b TAUSSIG CANCER INSTITUTE   (United States)

Author keywords

Gaucher's disease; Severe aortic and mitral valve calcification

Indexed keywords

GLUCOSYLCERAMIDASE; IMIGLUCERASE;

ADOLESCENT; ANGINA PECTORIS; AORTA ARCH; AORTA ROOT; AORTA VALVE; AORTA VALVE REPLACEMENT; ARTICLE; ASCENDING AORTA; CALCIFICATION; CASE REPORT; CONGESTIVE HEART FAILURE; CORONARY ARTERY; DISEASE SEVERITY; DYSPNEA; ELECTROCARDIOGRAM; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME THERAPY; GAUCHER DISEASE; GENE MUTATION; HEART CATHETERIZATION; HOMOZYGOSITY; HUMAN; MALE; MITRAL VALVE; MITRAL VALVE REPLACEMENT; PRIORITY JOURNAL; SIBLING; SYMPTOMATOLOGY;

ADOLESCENT; AMINO ACID SUBSTITUTION; AORTA, THORACIC; CALCINOSIS; GAUCHER DISEASE; HOMOZYGOTE; HUMANS; MALE; MICROSCOPY, ELECTRON; MITRAL VALVE; MUTATION;

EID: 0035005865     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590511.x     Document Type: Article

References (4)

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2. Abrahamov A, Elstein D, Gross-Tsur V et al. Gaucher's disease variant characterized by progressive calcification of heart valves and unique genotype. Lancet 1995: 346: 1000-1003.
3. Horowitz M, Tzuri G, Eyal N et al. Prevalence of nine mutations among Jewish and non-Jewish Gaucher's disease patients. Am J Human Genet 1993: 53: 921-930.
4. Chabas A, Cormond B, Grinberg D et al. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet 1995: 32: 740-742.