Vitamin D Research

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Gaucher's and Fabry's Disease

• Vitamin D Receptor (VDR) Polymorphisms in the Cardiac Variant of Gaucher Disease. Pediatr Cardiol. 2009 Sep 26.
• Patients with Gaucher disease living in England show a high prevalence of vitamin D insufficiency with correlation to osteodensitometry. Mol Genet Metab. 2009 Mar;96(3):113–20.
• Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease. Genetica. 2008 Nov;134(3):377–83.
• Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density. Rheumatol Int. 2008 Jul;28(9):873–7.
• Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. Eur J Med Res. 2008 Jan 23;13(1):31–8.
• Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci U S A. 2007 Feb 20;104(8):2873–8.
• Gene polymorphisms leading to calcified and stenotic aortic valves. Herz. 2006 Oct;31(7):635–43. Review.
• Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. Blood Cells Mol Dis. 2002 Mar–Apr;28(2):288–96.

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