Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1-Reference-Cited by-同舟云学术

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Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1

Published:2024-05-23 Issue: Volume: Page:
ISSN:1720-8386
Container-title:Journal of Endocrinological Investigation
language:en
Short-container-title:J Endocrinol Invest

Author:

Jones G.^ORCID,Kaufmann M.^ORCID,St-Arnaud R.^ORCID

Funder

E-Rare

NIH Office of the Director

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s40618-024-02381-8.pdf

Reference41 articles.

1. St-Arnaud R, Jones G (2024) Chapter 5: CYP24A1: Structure, function and physiological role. In: Hewison M et al (eds) Vitamin D, 5th edn. Elsevier, San Diego, CA

2. Lightwood R, Stapleton T (1953) Idiopathic hypercalcaemia in infants. Lancet (London, England) 265:255–256

3. Stapleton T, Macdonald WB, Lightwood R (1957) The pathogenesis of idiopathic hypercalcemia in infancy. Am J Clin Nutr 5:533–542

4. Cetani F, Cappellani D, Brancatella A, Jones G, Marcocci C (2024) Chapter 69: Infantile hypercalcemia and CYP24A1 mutations. In: Hewison M et al (eds) Vitamin D, 5th edn. Elsevier, San Diego, CA

5. Fanconi G (1951) Chronic disorders of calcium and phosphate metabolism in children. Schweizerische medizinische Wochenschrift 81:908–913

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