Evidence map›Paper›PMID 27896091›Full record

ArticleMolecular genetics and metabolism reports2014

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease.

Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers and 2 more

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

Article in Molecular genetics and metabolism reports, 2014. 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
0.2field-weighted citation impact, top 44% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. AMolecular genetics and metabolism reports · 2014
    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

12 authors at 4 institutions in 1 country.

Julie HarvengtMetabolic Unit, Department of Medical Genetics, CHU-CHC, Liège, Belgium.
Catherine WantyLiver Unit, Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Boel De PaepeDepartment of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
Christine SempouxDepartment of pathology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Nicole RevencuDepartment of Medical Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Joél SmetDepartment of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
Rudy Van CosterDepartment of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
Willy LissensDepartment of Medical Genetics, University Hospital AZ-VUB, Brussels, Belgium.
Sara SenecaDepartment of Medical Genetics, University Hospital AZ-VUB, Brussels, Belgium.
Laurent WeekersMetabolic Unit, Department of Medical Genetics, CHU-CHC, Liège, Belgium.
Etienne SokalLiver Unit, Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
François-Guillaume DebrayMetabolic Unit, Department of Medical Genetics, CHU-CHC, Liège, Belgium.
Cliniques Universitaires Saint-Luc · BECentre Hospitalier Chrétien · BEGhent University Hospital · BEUniversitair Ziekenhuis Brussel · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the

Indexed as

ERT, enzyme replacement therapyGaucher diseaseMitochondrial diseasemtDNA depletionmtDNA, mitochondrial DNANeurohepatic

Identifiers

PMID27896091
PMCPMC5121303
OpenAlexW2048495148

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.