SUN-LB13 Idiopathic Infantile Hypercalcemia Secondary to CYP24A1 Mutation: A Rare Case Without Exogenous Vitamin D Supplementation

Background: Mutations in CYP24A1, which encodes 24-hydroxylase, the key enzyme for Vitamin D breakdown, cause symptomatic hypercalcemia and nephrocalcinosis in infants on Vitamin D supplementation. New, symptomatic diagnoses of idiopathic infantile hypercalcemia without exogenous supplementation are...

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Bibliographic Details
Published in:J Endocr Soc
Main Authors: Tell, Shoshana, Finn, Erin, Ohman-Hanson, Rebecca Anne, Ma, Nina
Format: Artigo
Language:Inglês
Published: Oxford University Press 2020
Subjects:
Pediatric Endocrinology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207811/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.2005
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