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24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia Disorders

CONTEXT: CYP24A1 encodes 24-hydroxylase, which converts 25(OH)D3 and 1,25(OH)(2)D(3) to inactive metabolites. Loss-of-function variants in CYP24A1 are associated with 24-hydroxylase deficiency (24HD), characterized by hypercalcemia, nephrolithiasis, and nephrocalcinosis. We retrospectively reviewed...

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Detalles Bibliográficos
Autores principales:	Azer, Sarah M, Vaughan, Lisa E, Tebben, Peter J, Sas, David J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Clinical Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317629/ https://www.ncbi.nlm.nih.gov/pubmed/34337279 http://dx.doi.org/10.1210/jendso/bvab119

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