Evidence map›Paper›PMID 32670797›Full record

ArticleMolecular genetics and metabolism reports2020

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.

Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier and 2 more

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

Article in Molecular genetics and metabolism reports, 2020. 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
0.2field-weighted citation impact, top 45% 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, 3 citations in OpenAlex.

  1. Review
  2. Article
  3. Facial features of lysosomal storage disorders.Expert review of endocrinology & metabolism · 2022
    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 5 institutions in 1 country.

Auriane CospainCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France.
Christèle DubourgUniv Rennes, CNRS, IGDR, UMR 6290, Rennes F-35000, France.
Swellen GastineauDepartment of Pediatrics, Rennes University Hospital, Rennes, France.
Samia PichardDepartment of neuropediatrics and Metabolism, Reference Center of Inherited Metabolic Disorders, Robert Debré Hospital, Paris, France.
Virginie GandemerDepartment of Pediatric onco-Haematology, Rennes University Hospital, University Rennes1, Rennes, France.
Jacinthe BonneauDepartment of Pediatric onco-haematology, Rennes university hospital, Rennes, France.
Marie de TayracUniv Rennes, CNRS, IGDR, UMR 6290, Rennes F-35000, France.
Caroline MoreauUniv Rennes, INSERM, INRA, Institut NuMeCan, Laboratoire de Biochimie-Toxicologie, Hôpital Pontchaillou CHU Rennes, 2 rue Henri Le Guilloux, 35000 Rennes, France.
Sylvie OdentCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France.
Laurent PasquierCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France.
Lena DamajCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France.
Alinoë LavillaureixCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France.
Centre Hospitalier Universitaire de Rennes · FRCentre National de la Recherche Scientifique · FRUniversité Rennes 2 · FRAssistance Publique – Hôpitaux de Paris · FRInserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including

Indexed as

ACMG, American College of Medical Genetics and GenomicsChronic intestinal pseudoobstructionCIPO, Chronic intestinal pseudoobstructionENT, Ear, Nose and ThroatERT, enzyme replacement therapyExome sequencingGAGs, glycosaminoglycansHSTC, hematopoietic stem cell transplantationHurler-Scheie diseaseIFs, Incidental findingsIncidental findingMPS-I, mucopolysaccharidosis type IMucopolysaccharidosis type IMYH11SFs, Secondary findings

Identifiers

PMID32670797
PMCPMC7341448
OpenAlexW3041349391

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.