Evidence map›Paper›PMID 34163424›Full record

ArticleFrontiers in neurology2021

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

Bibiche den Hollander, Anne Rasing, Merel A Post, Willemijn M Klein, Machteld M Oud, Marion M Brands, Lonneke de Boer, Udo F H Engelke, Peter van Essen, Sabine A Fuchs and 16 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
3.1field-weighted citation impact, top 8% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
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

26 authors at 12 institutions in 6 countries.

Bibiche den HollanderDepartment of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.
Anne RasingDepartment of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
Merel A PostUnited for Metabolic Diseases, Amsterdam, Netherlands.
Willemijn M KleinDepartment of Radiology and Nuclear Medicine and Anatomy, Radboud University Medical Centre, Nijmegen, Netherlands.
Machteld M OudDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
Marion M BrandsDepartment of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.
Lonneke de BoerDepartment of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
Udo F H EngelkeTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
Peter van EssenRadboudumc Technology Center Clinical Studies, Radboud University Medical Center, Nijmegen, Netherlands.
Sabine A FuchsUnited for Metabolic Diseases, Amsterdam, Netherlands.
Charlotte A HaaxmaDepartment of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
Brynjar O JenssonDecode Genetics/Amgen, Inc., Reykjavik, Iceland.
Leo A J KluijtmansUnited for Metabolic Diseases, Amsterdam, Netherlands.
Anna Lengyel2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
Klaske D LichtenbeltDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Elsebet ØstergaardDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Gera PetersDepartment of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
Ramona SalvarinovaDepartment of Pediatrics, University of British Columbia, Vancouver, BC, Canada.
Marleen E H SimonDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Kari StefanssonDecode Genetics/Amgen, Inc., Reykjavik, Iceland.
Ólafur ThorarensenDepartment of Pediatrics, Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavík, Iceland.
Ulrike UlmenDepartment of Pediatrics, Sana Klinikum Lichtenberg, Berlin, Germany.
Karlien L M CoeneTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
Michèl A WillemsenUnited for Metabolic Diseases, Amsterdam, Netherlands.
Dirk J LefeberUnited for Metabolic Diseases, Amsterdam, Netherlands.
Clara D M van KarnebeekDepartment of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.
Radboud University Medical Center · NLRadboud University Nijmegen · NLUniversity Medical Center Utrecht · NLUniversity of British Columbia · CACopenhagen University Hospital · DKdeCODE Genetics (Iceland) · ISEmma Kinderziekenhuis · NLNational University Hospital of Iceland · ISSana Klinikum Lichtenberg · DESemmelweis University · HUUniversity of Iceland · ISWilhelmina Children's Hospital · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

congenital disorder of glycosylationglycosylationintellectual developmental disorder/IDDmetabolic diseaseN-acetyl-D-neuraminic acidsialic acid biosynthesisskeletal dysplasiathrombocytopenia

Identifiers

PMID34163424
PMCPMC8215539
OpenAlexW3170980390

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.