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Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature

Pathogenic mutations of CYP24A1 lead to an impaired catabolism of vitamin D metabolites and should be considered in the differential diagnosis of hypercalcemia with low parathyroid hormone concentrations. Diagnosis is based on a reduced 24,25-dihydroxyvitamin D to 25-hydroxyvitamin D ratio and confi...

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Detalles Bibliográficos
Autores principales:	Pilz, Stefan, Theiler-Schwetz, Verena, Pludowski, Pawel, Zelzer, Sieglinde, Meinitzer, Andreas, Karras, Spyridon N., Misiorowski, Waldemar, Zittermann, Armin, März, Winfried, Trummer, Christian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9229801/ https://www.ncbi.nlm.nih.gov/pubmed/35745247 http://dx.doi.org/10.3390/nu14122518

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