Evidence map›Paper›PMID 29300369›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Curtis R Coughlin, Michael A Swanson, Kathryn Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez-Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon-Swindell, Ana M Brás-Goldberg and 10 more

Open access · bronzeAbstract readPublished Erratum
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 100% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Severe nonketotic hyperglycinaemia due to a synonymous variant.Molecular genetics and metabolism reports · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors at 8 institutions in 5 countries.

Curtis R CoughlinSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Michael A SwansonSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Kathryn KronquistSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Cécile AcquavivaService Maladies Héréditaires du Métabolisme, Centre de Biologie Est, CHU de Lyon, Lyon, France.
Tim HutchinNewborn Screening and Biochemical Genetics, Birmingham Children's Hospital, Birmingham, UK.
Pilar Rodríguez-PomboCentro de Diagnóstico de Enfermedades Moleculares (CEDEM), CBM-SO, (UAM-CISC), Centro de Investigación en Red de Enfermedades Raras (CIBERER), IDIPAZ, Universidad Autónoma Madrid, Madrid, Spain.
Marja-Leena VäisänenResearch Group of Cancer Research and Translational Medicine, University of Oulu, Oulu, and Northern Finland Laboratory Centre Nordlab, Oulu, Finland.
Elaine SpectorSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Geralyn Creadon-SwindellSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Ana M Brás-GoldbergNewborn Screening and Biochemical Genetics, Birmingham Children's Hospital, Birmingham, UK.
Elisa RahikkalaPEDEGO Research Unit, Medical Research Center, Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu, Finland.
Jukka S MoilanenPEDEGO Research Unit, Medical Research Center, Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu, Finland.
Vincent MahieuCenter for Human Genetics, University of Leuven, Leuven, Belgium.
Gert MatthijsCenter for Human Genetics, University of Leuven, Leuven, Belgium.
Irene Bravo-AlonsoCentro de Diagnóstico de Enfermedades Moleculares (CEDEM), CBM-SO, (UAM-CISC), Centro de Investigación en Red de Enfermedades Raras (CIBERER), IDIPAZ, Universidad Autónoma Madrid, Madrid, Spain.
Celia Pérez-CerdáCentro de Diagnóstico de Enfermedades Moleculares (CEDEM), CBM-SO, (UAM-CISC), Centro de Investigación en Red de Enfermedades Raras (CIBERER), IDIPAZ, Universidad Autónoma Madrid, Madrid, Spain.
Magdalena UgarteCentro de Diagnóstico de Enfermedades Moleculares (CEDEM), CBM-SO, (UAM-CISC), Centro de Investigación en Red de Enfermedades Raras (CIBERER), IDIPAZ, Universidad Autónoma Madrid, Madrid, Spain.
Christine Vianey-SabanService Maladies Héréditaires du Métabolisme, Centre de Biologie Est, CHU de Lyon, Lyon, France.
Gunter H ScharerSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Johan L K Van HoveSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. Johan.Vanhove@childrenscolorado.org.
Centre for Biomedical Network Research on Rare Diseases · ESChildren's Hospital Colorado · USBirmingham Children's Hospital · GBKU Leuven · BEOulu University Hospital · FIUniversity of Colorado Denver · USChildren's Minnesota · USNordLab · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The original supplementary information included with this article contained several minor errors. Corrected Supplementary Information accompanies this corrigendum.

Identifiers

PMID29300369
OpenAlexW2781535821

What OpenQuestion holds

Textmetadata
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.