Evidence map›Paper›PMID 38780860›Full record

ReviewJournal of endocrinological investigation2024

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

G Jones, M Kaufmann, R St-Arnaud

Abstract readReview
PubMed Publisher
In one paragraph

Review in Journal of endocrinological investigation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

G JonesDepartment of Biomedical & Molecular Sciences, Queen's University, Kingston, ON, Canada. gj1@queensu.ca.ORCID http://orcid.org/0000-0001-7402-3473
M KaufmannDepartment of Biomedical & Molecular Sciences, Queen's University, Kingston, ON, Canada.ORCID http://orcid.org/0000-0003-0163-2205
R St-ArnaudShriners Hospitals for Children-Canada and McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0003-1016-1580

Funding

Optimal bone fracture repair requires 24,25-dihydroxyvitamin D and its effector molecule, FAM57B2R01AR070544 · NIAMS · MCGILL UNIVERSITY · PI ST-ARNAUD, RENÉ · 2016 to 2020
$1.2M
E-Rare ERA-132931NIAMS NIH HHS R01 AR070544
6 · The paper itself

Abstract

Infantile hypercalcemia type 1 (HCINF1), formerly known as Lightwood syndrome, is a subtype of hypercalcemia caused by loss-of-function biallelic mutations in the vitamin D catabolic enzyme, CYP24A1, which 24-hydroxylates the hormone 1,25-(OH)

Indexed as

HypercalcemiaMutationNephrocalcinosisNephrolithiasisVitamin D3 24-HydroxylaseHumansVitamin DCYP24A1 protein, humanVitamin DVitamin D3 24-HydroxylaseCYP24A1HCINF-type 1HypercalcemiaNephrocalcinosisNephrolithiasisVitamin D

Identifiers

PMID38780860

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.