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Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1
SUMMARY: Parathyroid-independent hypercalcaemia of pregnancy, due to biallelic loss of function of the P450 enzyme CYP24A1, the principal inactivator of 1,25(OH)(2)D results in hypervitaminosis D, hypercalcaemia and hypercalciuria. We report two cases of this disorder, with intractable hypercalcaemi...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bioscientifica Ltd
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893306/ https://www.ncbi.nlm.nih.gov/pubmed/31751313 http://dx.doi.org/10.1530/EDM-19-0114 |