Evidence map›Paper›PMID 40718141›Full record

ArticleFrontiers in genetics2025

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.

Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami, Franco Laccone, Daniela Karall, Walter Bonfig, Helen Stewart, Denisa Weis

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

10 authors.

Katarína KušíkováDepartment of Pediatric Neurology, Medical School, Comenius University and National Institute of Children's Diseases, Bratislava, Slovakia.
Tzung-Chien HsiehInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany.
Mateja PfeiferInstitute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Christine FauthInstitute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Yoshiko MurakamiLaboratory of Immunoglycobiology, Research Institute for microbial diseases, Osaka University, Osaka, Japan.
Franco LacconeInstitute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Daniela KarallDepartment of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
Walter BonfigDepartment of Pediatrics, Klinikum Wels-Grieskirchen, Wels, Austria.
Helen StewartOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Denisa WeisDepartment of Medical Genetics, Kepler University Hospital, School of Medicine, Johannes Kepler University, Linz, Austria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The glycosylphosphatidylinositol (GPI) anchor is a glycolipid that anchors proteins to the eukaryotic cell surface. An anchoring process is a posttranslational modification of at least 150 molecules with various functions. Biallelic causal variants in the Methods: We present two novel cases of MCAHS4 with one novel and one already known variant in the Results: In the Discussion: The present work expands the genotype spectrum by describing a novel causal

Indexed as

GestaltMatcherGPI-anchorGPI-anchor deficiencyhyperCKemiaMCAHS4PIGQ-CDGPIGQ generhabdomyolysis

Identifiers

PMID40718141
PMCPMC12289473

What Socratic 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 Socratic graph.