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Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis.

European urology - 1 Jul 2015

Sayer John A

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PMID: 26088734
DOI: 10.1016/j.eururo.2015.03.056

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Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis.PMID 26088734Read ↗

Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.Semantic proximity Read ↗

A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.Semantic proximity Read ↗

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.Semantic proximity Read ↗

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CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations.Semantic proximity Read ↗

Therapy-Resistant Hypercalcemia in a Patient with Inactivating CYP24A1 Mutation and Recurrent Nephrolithiasis: Beware of Concomitant Hyperparathyroidism.Semantic proximity Read ↗

Hyperparathyroidism complicating CYP 24A1 mutations.Semantic proximity Read ↗

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

24-Hydroxylase Deficiency Due toCYP24A1Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia DisordersSemantic proximity Read ↗

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Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?Semantic proximity Read ↗

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