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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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| Publicado no: | J Endocr Soc |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8317629/ https://ncbi.nlm.nih.gov/pubmed/34337279 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab119 |
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