Evidence map›Paper›PMID 37108612›Full record

ArticleInternational journal of molecular sciences2023

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (

Natalia Semenova, Olga Shatokhina, Olga Shchagina, Elena Kamenec, Andrey Marakhonov, Anna Degtyareva, Natalia Taran, Tatiana Strokova

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. [ATPase HZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026
    Article
  2. Article
  3. 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

8 authors at 3 institutions in 1 country.

Natalia SemenovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-7041-045X
Olga ShatokhinaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-0351-1271
Olga ShchaginaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-4905-1303
Elena KamenecResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Andrey MarakhonovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Anna DegtyarevaNational Medical Research Center for Obstetrics, Gynecology and Perinatology Named after V.I. Kulakov, Ministry of Health of the Russian Federation, 127994 Moscow, Russia.ORCID 0000-0003-0822-751X
Natalia TaranFederal Research Center of Nutrition and Biotechnology, 109240 Moscow, Russia.
Tatiana StrokovaFederal Research Center of Nutrition and Biotechnology, 109240 Moscow, Russia.
Research Centre for Medical Genetics · RUFederal Research Centre of Nutrition and Biotechnology · RUSechenov University · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Here, we examine the case of a 1-year-old male patient of Buryat origin, who presented with liver dysfunction. At the age of 3 months, he was hospitalized with jaundice and hepatosplenomegaly. Whole-exome sequencing identified the

Indexed as

Congenital Disorders of GlycosylationLiver TransplantationVacuolar Proton-Translocating ATPasesGlycosylationHumansInfantMaleTacrolimusTransferrinATP6AP1 protein, humanTacrolimusTransferrinVacuolar Proton-Translocating ATPasesATP6AP1cholestasisliver transplantationX-linked primary immunodeficiency

Identifiers

PMID37108612
PMCPMC10140882
OpenAlexW4366425579

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.