Evidence map›Paper›PMID 26734137›Full record

ArticleClinical case reports2015

Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation.

Laila Füchtbauer, Klaus Brusgaard, Pål Ledaal, Morten Frost, Anja L Frederiksen

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 20% of its field
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

4 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Review
  3. The comparability of HR-pQCT bone measurements is improved by scanning anatomically standardized regions.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2017
    Article
  4. 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

5 authors at 3 institutions in 2 countries.

Laila FüchtbauerDepartment of Endocrinology Sahlgrenska Universitetssjukhuset Gothenburg Sweden.
Klaus BrusgaardDepartment of Clinical Genetics Odense University Hospital Odense Denmark.
Pål LedaalPediatric Department Sygehus Sønderjylland Sønderborg Denmark.
Morten FrostDepartment of Endocrinology M Odense University Hospital Odense Denmark.
Anja L FrederiksenDepartment of Clinical Genetics Odense University Hospital Odense Denmark.
Odense University Hospital · DKSahlgrenska University Hospital · SESygehus Sønderjylland · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Vitamin D-dependent rickets type 1 VDDR-1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long-time follow-up of a case with a novel mutation including high-resolution peripheral quantitative computed tomography of the bone. Adequate treatment resulted in a normalized phenotype.

Indexed as

Bone mineral densityCYP27B1HR‐pQCTPseudo‐vitamin D deficiency ricketsVitamin D‐dependent rickets type 1

Identifiers

PMID26734137
PMCPMC4693699
OpenAlexW2142482563

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.