Evidence map›Paper›PMID 34485021›Full record

ArticleJIMD reports2021

Abnormal

Eileen P Treacy, Sebastian Vencken, Annet M Bosch, Matthias Gautschi, Estela Rubio-Gozalbo, Charlotte Dawson, Darragh Nerney, Hugh Owen Colhoun, Loai Shakerdi, Gregory M Pastores and 2 more

Open access · goldAbstract read
In one paragraph

Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 30% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. AbnormalJIMD reports · 2021
    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 9 institutions in 4 countries.

Eileen P TreacyNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin Ireland.ORCID https://orcid.org/0000-0002-6226-1615
Sebastian VenckenDepartment of Medicine Trinity College Dublin Dublin Ireland.
Annet M BoschDepartment of Pediatrics, Division of Metabolic Disorders Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.
Matthias GautschiDepartment of Paediatrics and Institute of Clinical Chemistry Inselspital, University Hospital Bern Bern Switzerland.
Estela Rubio-GozalboDepartment of Pediatrics/Laboratory of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands.
Charlotte DawsonDepartment of Endocrinology University Hospitals Birmingham NHS Foundation Trust Birmingham UK.
Darragh NerneyNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin Ireland.
Hugh Owen ColhounNIBRT GlycoScience Group, National Institute for Bioprocessing, Research and Training Dublin Ireland.
Loai ShakerdiNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin Ireland.
Gregory M PastoresNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin Ireland.
Roisin O'FlahertyNIBRT GlycoScience Group, National Institute for Bioprocessing, Research and Training Dublin Ireland.
Radka SaldovaNIBRT GlycoScience Group, National Institute for Bioprocessing, Research and Training Dublin Ireland.
Mater Misericordiae University Hospital · IEUniversity College Dublin · IEEmma Kinderziekenhuis · NLMaastricht University Medical Centre · NLNational Institute for Bioprocessing Research and Training · IENational University of Ireland, Maynooth · IETrinity College Dublin · IEUniversity Hospital of Bern · CHUniversity Hospitals Birmingham NHS Foundation Trust · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundClassical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism, due to deficiency of galactose-1-phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long-term complications, mainly cognitive, neurological, and female infertility remains poorly understood.

objectivesThis study investigated (a) the association between specific IgG

resultsA very significant decrease in galactosylation and sialylation and an increase in core fucosylation was noted in CG patients vs controls (

conclusionThese results suggest that

Indexed as

biomarkersclassical galactosemiadietary galactoseimmunoglobulin GN‐glycosylation

Identifiers

PMID34485021
PMCPMC8411110
OpenAlexW3196401725

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.