Evidence map›Paper›PMID 32395408›Full record

ArticleJIMD reports2020

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Elena A Kamenets, Elena A Gusarova, Natalia V Milovanova, Yulia S Itkis, Tatiana V Strokova, Maria A Melikyan, Irina V Garyaeva, Irina G Rybkina, Natalia V Nikitina, Ekaterina Y Zakharova

Open access · goldAbstract read
In one paragraph

Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

11 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Glycogen storage diseases.Nature reviews. Disease primers · 2023
    Review
  5. Glycogen storage diseases: An update.World journal of gastroenterology · 2023
    Review
  6. Article
  7. Review
  8. Article
  9. Hypoglycaemia Metabolic Gene Panel Testing.Frontiers in endocrinology · 2022
    Review
  10. Review
  11. 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 at 5 institutions in 1 country.

Elena A KamenetsResearch Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia.ORCID https://orcid.org/0000-0002-6210-0280
Elena A GusarovaResearch Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia.
Natalia V MilovanovaResearch Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia.
Yulia S ItkisResearch Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia.
Tatiana V StrokovaFederal Research Center for Nutrition and Biotechnology Federal State Budgetary Institution Moscow Russia.
Maria A MelikyanNational Research Center for Endocrinology Federal State Budgetary Institution Moscow Russia.
Irina V GaryaevaMorozov municipal children's Hospital of Moscow City Federal State Budgetary Institution Moscow Russia.
Irina G RybkinaMorozov municipal children's Hospital of Moscow City Federal State Budgetary Institution Moscow Russia.
Natalia V NikitinaClinical-Diagnostic Center of Mother and Child Health Protection Federal State Budgetary Institution Yekaterinburg Russia.
Ekaterina Y ZakharovaResearch Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia.
Research Centre for Medical Genetics · RURussian Children's Clinical Hospital · RUEndocrinology Research Center · RUFederal Research Centre of Nutrition and Biotechnology · RURussian Research Institute for Integrated Water Management and Protection · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the SYNOPSIS: Seven new patients with glycogen storage disease type 0 were found using next-generation sequencing and seven novel variants of

Indexed as

glycogen storage diseaseglycogen synthaseGSD0GYS2hypoglycemiaketonesnext generation sequencing

Identifiers

PMID32395408
PMCPMC7203652
OpenAlexW3007376512

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.