Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation

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Idiopathic infantile hypercalcaemia (IIH) is an autosomal recessively inherited disease, presented in the first year of life with hypercalcaemia, precipitated by normal amounts of vitamin D supplementation. Recently loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-metaboli...

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Detalles Bibliográficos
Autores principales: Meusburger, Edgar, Mündlein, Axel, Zitt, Emanuel, Obermayer-Pietsch, Barbara, Kotzot, Dieter, Lhotta, Karl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Clinical Cases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3811979/
https://www.ncbi.nlm.nih.gov/pubmed/24175086
http://dx.doi.org/10.1093/ckj/sft008
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