Evidence map›Paper›PMID 36341163›Full record

ArticleJIMD reports2022

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts

Katsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, Tasuku Mariya, Rie Kawamura, Makiko Tsutsumi, Hidehito Inagaki, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi

Open access · goldAbstract readCase Reports
In one paragraph

Article in JIMD reports, 2022. 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
0.3field-weighted citation impact, top 44% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  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 at 2 institutions in 1 country.

Katsuyuki YokoiDepartment of Pediatrics Fujita Health University School of Medicine Toyoake Japan.
Yoko NakajimaDepartment of Pediatrics Fujita Health University School of Medicine Toyoake Japan.ORCID https://orcid.org/0000-0002-6944-4131
Yuta SudoDepartment of Pediatrics Fujita Health University School of Medicine Toyoake Japan.
Tasuku MariyaDepartment of Obstetrics and Gynecology Sapporo Medical University School of Medicine Sapporo Japan.
Rie KawamuraDivision of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University Toyoake Japan.
Makiko TsutsumiDivision of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University Toyoake Japan.
Hidehito InagakiDivision of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University Toyoake Japan.
Tetsushi YoshikawaDepartment of Pediatrics Fujita Health University School of Medicine Toyoake Japan.
Tetsuya ItoDepartment of Pediatrics Fujita Health University School of Medicine Toyoake Japan.
Hiroki KurahashiDivision of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University Toyoake Japan.
Fujita Health University · JPSapporo Medical University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched-chain amino acid metabolism caused by mutations in

Indexed as

BCKDHAFISHmaple syrup urine diseaseparacentric inversion of Chromosome 19whole‐exome sequencing

Identifiers

PMID36341163
PMCPMC9626657
OpenAlexW4297859213

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.