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

Mostrar otras versiones (1)

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...

Descripción completa

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

Ejemplares similares

Ejemplares similares