Evidence map›Paper›PMID 33489759›Full record

ArticleMolecular genetics and metabolism reports2021

Novel

Hiroyuki Iijima, Yasuhiko Ago, Ryoji Fujiki, Takaaki Takayanagi, Mitsuru Kubota

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

Article in Molecular genetics and metabolism reports, 2021. 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
1.5field-weighted citation impact, top 18% 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, 10 citations in OpenAlex.

  1. Article
  2. Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024
    Review
  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

5 authors at 4 institutions in 1 country.

Hiroyuki IijimaDepartment of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
Yasuhiko AgoDepartment of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu 501-1194, Japan.
Ryoji FujikiDepartment of Applied Genomics, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu City, Chiba 292-0818, Japan.
Takaaki TakayanagiDepartment of Pediatrics, Ebara Hospital, 4-5-10 Higashiyukigaya, Ohta-ku, Tokyo 145-0065, Japan.
Mitsuru KubotaDepartment of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
National Center For Child Health and Development · JPEbara Hospital · JPGifu University · JPKazusa DNA Research Institute · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGlycogen storage disease type 0a (GSD 0a), caused by CASE PRESENTATION: A 4-year-old Japanese boy was admitted to our hospital because of hypoglycemia. We suspected GSD 0a based on recurrent irritability episodes before feeding, fasting ketotic hypoglycemia, postprandial hyperglycemia/hyperlactatemia, and no hepatomegaly. Mutation analyses revealed novel mutations (p.His610fs and deletion of exons 8-10) in the REVIEW OF LITERATURE: We summarized the clinical and biochemical features of 33 patients with GSD 0a and 27 different mutations in the

conclusionThis is a clinical report of a Japanese GSD 0a patient with novel

Indexed as

Diabetes mellitusFatty liverGlycogenosis, glycogen synthase 2Glycogen storage disease type 0aHaploinsufficiency

Identifiers

PMID33489759
PMCPMC7808955
OpenAlexW3120372863

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.