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

SUMMARY: 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...

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Detalles Bibliográficos
Autores principales: Nizar, Ryizan, Cantley, Nathan W P, Tang, Jonathan C Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8495722/
https://www.ncbi.nlm.nih.gov/pubmed/34551392
http://dx.doi.org/10.1530/EDM-21-0058