Mutations in CYP24A1 and Idiopathic Infantile Hypercalcemi

The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia and is a genetic risk factor for the development of symptomatic hypercalcemia that may be triggered by vitamin D prophylaxis in otherwise apparently healthy infants

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AUTORE: Karl P. Schlingmann, Martin Kaufmann, Stefanie Weber, et al.

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