Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

24-Hydroxylase Deficiency Due toCYP24A1Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia Disorders

2 Jul 2021

Abstract excerpt

Abstract Context CYP24A1 encodes 24-hydroxylase, which converts 25(OH)D3 and 1,25(OH)2D3 to inactive metabolites. Loss-of-function variants in CYP24A1 are associated with 24-hydroxylase deficiency (24HD), characterized by hypercalcemia, nephrolithiasis, and nephrocalcinosis. We retrospectively reviewed laboratory, imaging, and clinical characteristics of patients with suspected or confirmed 24HD and patients with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hormones and Disorders
Share to Sexual Differentiation and Disorders
Share to Vitamin D Research Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34337279
DOI: 10.1210/jendso/bvab119

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

24-Hydroxylase Deficiency Due toCYP24A1Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia DisordersPMID 34337279Read ↗

Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.Semantic proximity Read ↗

Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma-a case report and review.Semantic proximity Read ↗

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?Semantic proximity Read ↗

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

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.Semantic proximity Read ↗

A case of hypercalcemia Indications for 1,25-dihydroxyvitamin D prescription.Semantic proximity Read ↗

Genetic Diseases of Vitamin D Metabolizing Enzymes.Semantic proximity Read ↗

Vitamin D: An Overview of Gene Regulation, Ranging from Metabolism to Genomic EffectsSemantic proximity Read ↗

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.Semantic proximity Read ↗

Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.Semantic proximity Read ↗

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.Semantic proximity Read ↗

Cytochrome P450-mediated metabolism of vitamin D.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.