Evidence map›Paper›PMID 39435313›Full record

ArticleMolecular genetics and metabolism reports2024

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.

Kimberly M Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K Pivnick, David Rinker, Jonathan H Sheehan, Rory J Tinker, Rizwan Hamid, Joy D Cogan, Lynette Rives and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2024. 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
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. 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

15 authors.

Kimberly M EzellDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Yutaka FurutaDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Devin OglesbeeDepartment of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Eniko K PivnickDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, University of Tennessee Health Science Center, Memphis, TN, United States.
David RinkerDepartment of Biological Sciences, Center for Structural Biology, Vanderbilt University, Nashville, TN, USA.
Jonathan H SheehanDepartment of Internal Medicine, Division of Infectious Diseases, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Rory J TinkerDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Rizwan HamidDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Joy D CoganDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Lynette RivesDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Serena NeumannDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Brian CornerDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Mary KoziuraDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
John A PhillipsDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Undiagnosed Diseases Network

Funding

Vanderbilt Center for Undiagnosed Diseases (VCUD) - BiorepositoryU01HG007674 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COGAN, JOY D, HAMID, RIZWAN · 2014 to 2022
$13.7M
Vanderbilt Center of Excellence for Undiagnosed Disease (VCEUD)U01NS134349 · NINDS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lisa Bastarache, JOY D COGAN · 2023 to 2026
$3.8M
NHGRI NIH HHS U01 HG007674NINDS NIH HHS U01 NS134349
6 · The paper itself

Abstract

Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the

Indexed as

Congenital disorders of glycosylation (CDGs)STT3AUndiagnosed diseases network (UDN)

Identifiers

PMID39435313
PMCPMC11491968

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