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Page 1
Genetic causes of neonatal and infantile hypercalcaemia.
Gorvin CM. Gorvin CM. Pediatr Nephrol. 2022 Feb;37(2):289-301. doi: 10.1007/s00467-021-05082-z. Epub 2021 May 14. Pediatr Nephrol. 2022. PMID: 33990852 Free PMC article. Review.
Conditions associated with low serum PTH include idiopathic infantile hypercalcaemia, Williams-Beuren syndrome and inborn errors of metabolism, including hypophosphatasia. ...
Conditions associated with low serum PTH include idiopathic infantile hypercalcaemia, Williams-Beuren syndrome and inborn errors of m …
Update on vitamin D during childhood.
Abrams SA, Tiosano D. Abrams SA, et al. Curr Opin Endocrinol Diabetes Obes. 2014 Feb;21(1):51-5. doi: 10.1097/01.med.0000436252.53459.ef. Curr Opin Endocrinol Diabetes Obes. 2014. PMID: 24300739 Review.
Cytochrome P450-mediated metabolism of vitamin D.
Jones G, Prosser DE, Kaufmann M. Jones G, et al. J Lipid Res. 2014 Jan;55(1):13-31. doi: 10.1194/jlr.R031534. Epub 2013 Apr 6. J Lipid Res. 2014. PMID: 23564710 Free PMC article. Review.
Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant.
Zheng Z, Wu Y, Wu H, Jin J, Luo Y, Cao S, Shan X. Zheng Z, et al. J Pediatr Endocrinol Metab. 2023 Sep 29;36(11):999-1011. doi: 10.1515/jpem-2023-0147. Print 2023 Nov 27. J Pediatr Endocrinol Metab. 2023. PMID: 37768904 Review.
OBJECTIVES: Infantile hypercalcemia-1 (HCINF1) is a rare disease caused by pathogenic variants in the CYP24A1 gene, resulting in the inability to metabolize active vitamin D. This leads to hypercalcemia and severe complications. CONTENT: On December 8t …
OBJECTIVES: Infantile hypercalcemia-1 (HCINF1) is a rare disease caused by pathogenic variants in the CYP24A1 gene, res …