Evidence map›Paper›PMID 33728255›Full record

ArticleJIMD reports2021

SLC37A4-CDG: Second patient.

Matthew P Wilson, Dulce Quelhas, Elisa Leão-Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos and 5 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
1.1field-weighted citation impact, top 26% 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, 10 citations in OpenAlex.

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  5. SLC37A4-CDG: Second patient.JIMD reports · 2021
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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

15 authors at 6 institutions in 4 countries.

Matthew P WilsonLaboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven Leuven Belgium.ORCID https://orcid.org/0000-0003-2252-8730
Dulce QuelhasCentro de Genetica Medica Jacinto de Magalhaes, Centro Hospitalar Universitário de São João Porto Portugal.
Elisa Leão-TelesCentro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de São João Porto Portugal.
Luisa SturialeCNR, Institute for Polymers, Composites and Biomaterials (IPCB) Catania Italy.
Daisy RymenDepartment of Pediatrics Center for Metabolic Diseases, University Hospitals Leuven Leuven Belgium.
Liesbeth KeldermansLaboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven Leuven Belgium.
Valérie RaceLaboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven Leuven Belgium.
Erika SoucheLaboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven Leuven Belgium.
Esmeralda RodriguesCentro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de São João Porto Portugal.
Teresa CamposCentro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de São João Porto Portugal.
Emile Van SchaftingenDe Duve Institute, UCLouvain Brussels Belgium.
François FoulquierUniv. Lille, CNRS, UMR 8576, UGSF, Unité de Glycobiologie Structurale et Fonctionnelle Lille France.
Domenico GarozzoCNR, Institute for Polymers, Composites and Biomaterials (IPCB) Catania Italy.
Gert MatthijsLaboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven Leuven Belgium.
Jaak JaekenDepartment of Pediatrics Center for Metabolic Diseases, University Hospitals Leuven Leuven Belgium.
VIB-KU Leuven Center for Cancer Biology · BEHospital de São João · PTInstitute of Polymers, Composites and Biomaterials · ITKU Leuven · BECentre National de la Recherche Scientifique · FRde Duve Institute · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in

Indexed as

CDGG6PT1glycogen storage diseaseglycosylationhepatopathySLC37A4

Identifiers

PMID33728255
PMCPMC7932867
OpenAlexW3119607022

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.