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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Endocrinol Diabetes Metab Case Rep |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Bioscientifica Ltd
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6893306/ https://ncbi.nlm.nih.gov/pubmed/31751313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-19-0114 |
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