Evidence map›Paper›PMID 38770420›Full record

ArticleFrontiers in genetics2024

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker.

Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Case Report: Compound heterozygousFrontiers in immunology · 2026
    Article
  3. Article
  4. Review
  5. Frontiers in genetics · 2025
    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

11 authors.

Ivan Martínez DunckerLaboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.
Denisse Mata-SalgadoLaboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.
Ibrahim ShammasDepartment of Clinical Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
Wasantha RanatungaDepartment of Clinical Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
Earnest James Paul DanielPalmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Mario E Cruz MuñozLaboratorio de Inmunología Molecular, Facultad de Medicina, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.
Melania AbreuGenos Médica, Ciudad de México, Mexico.
Héctor Mora-MontesDepartamento de Biología, División de Ciencias Naturales y Exactas, Campus Guanajuato, Universidad de Guanajuato, Guanajuato, Mexico.
Miao HePalmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Eva MoravaDepartment of Clinical Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
Gildardo Zafra de la RosaGenetics Service, Cancer Center Tec100, Querétaro, Mexico.

Funding

Pilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI LAM, CHRISTINA · 2019 to 2023
$8.2M
NINDS NIH HHS U54 NS115198
6 · The paper itself

Abstract

This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in

Indexed as

ALG2biomarkerCDG (congenital disorder of glycosylation)congenital myasthenic syndromes (CMS)glycan

Identifiers

PMID38770420
PMCPMC11102957

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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.