ArticleCase reports in endocrinology2019
Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the
Article in Case reports in endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.The American journal of clinical nutrition · 2024Pooled it
- A Challenging Case of Hypercalcemia Caused by a Novel Homozygous Variant Missense Mutation in theJCEM case reports · 2026Article
- Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1.Journal of endocrinological investigation · 2024Review
- Persistent hypercalcaemia associated with two pathogenic variants in theFrontiers in endocrinology · 2024Review
- A Pregnant Woman With Hypercalcemia-Induced Acute Pancreatitis.Kidney international reports · 2023Article
- Validation of the 24,25-dihydroxyvitamin DThe Journal of steroid biochemistry and molecular biology · 2022Article
- Genetic polymorphisms related to the vitamin D pathway in patients with cirrhosis with or without hepatocellular carcinoma (HCC).Ecancermedicalscience · 2022Article
- Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.Frontiers in medicine · 2022Article
- Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.The Journal of clinical endocrinology and metabolism · 2021Observational
- Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).Molecular biology reports · 2021Article
- An Update on Vitamin D Metabolism.International journal of molecular sciences · 2020Review
- Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.Endocrine connections · 2020Article
- Consensus statement from 2Reviews in endocrine & metabolic disorders · 2020Article
- The association analysis between CYP24A1 genetic polymorphisms and the risk of ischemic stroke in Chinese Han population.Brain and behavior · 2020Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionLoss of function mutations of CYP24A1 gene, which is involved in vitamin D catabolism, cause vitamin D-mediated PTH-independent hypercalcemia. The phenotype varies from life-threatening forms in the infancy to milder forms in the adulthood. CASE PRESENTATION: We report a case of a 17-year-old woman with a history of nephrolithiasis, mild PTH-independent hypercalcemia (10,5mg/dL), and high serum 1,25(OH)
conclusion
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.