Evidence map›Paper›PMID 39893280›Full record

ReviewHormones (Athens, Greece)2025

Hereditary disorders of vitamin-D metabolism and its receptor.

Vasileios Lainis, Olga Katsouli, Sοusana Gazi, Evanthia Kassi, Efstathios Chronopoulos, Symeon Tournis

Abstract readReview
PubMed Publisher
In one paragraph

Review in Hormones (Athens, Greece), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

6 authors.

Vasileios LainisLaboratory for Research of the Musculoskeletal System "Th. Garofalidis", Medical School, National and Kapodistrian University of Athens, KAT General Hospital, Kifissia, Athens, Greece.
Olga KatsouliDepartment of Rheumatology, KAT General Hospital, Athens, Greece.
Sοusana GaziDepartment of Rheumatology, KAT General Hospital, Athens, Greece.
Evanthia KassiEndocrine Unit, First Department of Propaedeutic and Internal Medicine, Laiko Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Efstathios ChronopoulosLaboratory for Research of the Musculoskeletal System "Th. Garofalidis", Medical School, National and Kapodistrian University of Athens, KAT General Hospital, Kifissia, Athens, Greece.
Symeon TournisLaboratory for Research of the Musculoskeletal System "Th. Garofalidis", Medical School, National and Kapodistrian University of Athens, KAT General Hospital, Kifissia, Athens, Greece. stournis@med.uoa.gr.ORCID http://orcid.org/0000-0002-8301-324X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeHereditary disorders of vitamin D metabolism are rare diseases. This review summarizes the current knowledge in this field and highlights the complicated metabolism of vitamin D.

methodsPubMed and Google Scholar databases were searched in English. The keywords rickets, VDDR, vitamin D, metabolism, hypercalcemia, CYP2R1, CYP3A4, CYP24A1, and receptor were used and original and review articles were retrieved.

resultsVitamin D is produced in the skin following the action of ultraviolet light on 7-dehydrocholesterol or is taken up by food. The active form of the hormone 1,25(OH)

conclusionsBased on the evidence in the current literature, this article thoroughly reviews the metabolism of vitamin D, clinical symptoms, imaging findings, and available treatments for the different types of hereditary disorders related to vitamin D metabolism and action.

Indexed as

Receptors, CalcitriolRicketsVitamin DCholestanetriol 26-MonooxygenaseCytochrome P450 Family 2HumansMutationVitamin D3 24-HydroxylaseVitamin D DeficiencyCholestanetriol 26-MonooxygenaseCYP24A1 protein, humanCYP2R1 protein, humanCytochrome P450 Family 2Receptors, CalcitriolVDR protein, humanVitamin DVitamin D3 24-HydroxylaseCYP24A1CYP2R1CYP3A4HypercalcemiaRickets

Identifiers

PMID39893280

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.