Evidence map›Paper›PMID 26870756›Full record

ArticleData in brief2016

Dataset for a case report of a homozygous PEX16 F332del mutation.

Carlos Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O Jones, Ann Moser, Michael F Wangler

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Data in brief, 2016. 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

8 authors.

Carlos BacinoDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children׳s Hospital, Houston, TX, USA.
Yu-Hsin ChaoDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Elaine SetoDepartment of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, BCM, Houston, TX, USA; Texas Children׳s Hospital, Houston, TX, USA.
Tim LotzeDepartment of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, BCM, Houston, TX, USA; Texas Children׳s Hospital, Houston, TX, USA.
Fan XiaDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Richard O JonesKennedy Krieger Institute, Baltimore, MD, USA.
Ann MoserKennedy Krieger Institute, Baltimore, MD, USA.
Michael F WanglerDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children׳s Hospital, Houston, TX, USA.

Funding

Translational Neuroscience CoreU54HD079123 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI KRAUT, MICHAEL A · 2014 to 2019
$7.9M
Neuronal Mechanisms of Peroxisomal Biogenesis Defects in DrosophilaK08NS076547 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI WANGLER, MICHAEL FRANCIS · 2011 to 2015
$729k
NICHD NIH HHS U54 HD079123NINDS NIH HHS K08 NS076547
6 · The paper itself

Abstract

This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient׳s peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided.

Identifiers

PMID26870756
PMCPMC4737951

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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.