Evidence map›Paper›PMID 36425069›Full record

ArticleFrontiers in genetics2022

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene.

Yiyang Li, Chuan Tian, Si Huang, Weijie Zhang, Qiuyu Liutang, Yajun Wang, Guoda Ma, Riling Chen

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

Article in Frontiers in genetics, 2022. 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
0.2field-weighted citation impact, top 45% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  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

8 authors at 2 institutions in 1 country.

Yiyang LiDepartment of Pediatrics, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Chuan TianDepartment of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
Si HuangDepartment of Pediatrics, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Weijie ZhangDepartment of Pediatrics, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Qiuyu LiutangDepartment of Pediatrics, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Yajun WangDepartment of Pediatrics, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Guoda MaDepartment of Pediatrics, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Riling ChenDepartment of Pediatrics, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Guangdong Medical College · CNGuangzhou Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems. Here, we reported a case of familial GSD IV induced by novel compound heterozygous mutations in GBE1. The proband (at age 1) and her younger brother (at age 10 months) manifested hepatosplenomegaly, liver dysfunction, and growth retardation at onset, followed by progressive disease deterioration to liver cirrhosis with liver failure. During the disease course, the proband presented rare intractable asymptomatic hypoglycemia. The liver pathology was in line with GSD IV. Both cases carried pathogenic compound heterozygous mutations in GBE1 mutations, i.e., a missense mutation (c.271T>A,

Indexed as

asymptomatic hypoglycemiacase reportGBE1GSD IVliver transplantation

Identifiers

PMID36425069
PMCPMC9679404
OpenAlexW4308423953

What OpenQuestion holds

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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.