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

LC-MS/MS for Identifying Patients with CYP24A1 Mutations.

Clinical chemistry - 1 Jan 2016

Ketha Hemamalini, Kumar Rajiv, Singh Ravinder J

Abstract excerpt

BACKGROUND: Patients have been described with loss-of-function CYP24A1 (cytochrome P450, family 24, subfamily A, polypeptide 1) mutations that cause a high ratio of 25-hydroxyvitamin D to 24,25-dihydroxyvitamin D [25(OH)D/24,25(OH)2D], increased serum 1,25-dihydroxyvitamin D, and resulting hypercalcemia, hypercalciuria and nephrolithiasis. A 25(OH)D/24,25(OH)2D ratio that can identify patients who are candidates...

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to DNA Mutational Analysis
Share to Hypercalcemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Tandem Mass Spectrometry

Share to Vitamin D3 24-Hydroxylase

Source

Identifiers

PMID: 26585929
DOI: 10.1373/clinchem.2015.244459

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

LC-MS/MS for Identifying Patients with CYP24A1 Mutations.PMID 26585929Read ↗

Simultaneous measurement of 25(OH)-vitamin D and 24,25(OH)2-vitamin D to define cut-offs for CYP24A1 mutation and vitamin D deficiency in a population of 1200 young subjects.Semantic proximity Read ↗

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.Semantic proximity Read ↗

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

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

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

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

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

Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients.Semantic proximity Read ↗

Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 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 ↗

Elucidation of metabolic pathways of 25-hydroxyvitamin D3 mediated by CYP24A1 and CYP3A using Cyp24a1 knockout rats generated by CRISPR/Cas9 systemSemantic proximity Read ↗

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