Evidence map›Paper›PMID 23420719›Full record

ArticleBMJ case reports2013

Kearns-Sayre syndrome presenting as isolated growth failure.

Conisha Mone Holloman, Lynne A Wolfe, William A Gahl, Cornelius F Boerkoel

Abstract readCase Reports
In one paragraph

Article in BMJ case reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 32% 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

3 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

4 authors at 3 institutions in 1 country.

Conisha Mone HollomanUndiagnosed Diseases Program, Office of the Director and NHGRI, NIH, Bethesda, Maryland, USA.
Lynne A Wolfe
William A Gahl
Cornelius F Boerkoel
National Human Genome Research Institute · USOffice of the Director · USUniversity of Rochester · US

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Intramural NIH HHS ZIA HG000215
6 · The paper itself

Abstract

Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. Her history emphasises that defects of energy metabolism can present as isolated growth failure.

Indexed as

BlepharoptosisChildDiagnosis, DifferentialFatigueFemaleGrowth DisordersHumansHypothyroidismKearns-Sayre SyndromeOptic Atrophies, HereditaryRetinitis Pigmentosa

Identifiers

PMID23420719
PMCPMC3604337
OpenAlexW2153662127

What OpenQuestion holds

Textmetadata
LicenceTDM
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.