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Juvenile onset IIH and CYP24A1 mutations

The term Idiopathic infantile hypercalcemia (IIH) was first introduced almost 70 years ago when symptomatic hypercalcemia developed in children after receiving high doses of vitamin D for the prevention of rickets. The underlying pathophysiology remained unknown until recessive mutations in CYP24A1...

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Detalles Bibliográficos
Autores principales: Schlingmann, Karl P., Cassar, Walburga, Konrad, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303532/
https://www.ncbi.nlm.nih.gov/pubmed/30591926
http://dx.doi.org/10.1016/j.bonr.2018.06.005