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Infantile hypercalcaemia type 1: a vitamin D-mediated, under-recognised cause of hypercalcaemia

A 33-year-old gentleman of Egyptian heritage presented with a 21 years history of unexplained and recurrent hypercalcaemia, nephrolithiasis, nephrocalcinosis, and myocarditis. A similar history was also found in two first-degree relatives. Further investigation into the vitamin D metabolism pathway...

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Principais autores: Ryizan Nizar, Nathan W P Cantley, Jonathan C Y Tang
格式: Artigo
語言:Inglês
出版: Bioscientifica 2021-09-01
叢編:Endocrinology, Diabetes & Metabolism Case Reports
在線閱讀:https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM21-0058.xml
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