Evidence map›Paper›PMID 34660840›Full record

ArticleChild neurology open

Novel

Akiyo Yamamoto, Shinobu Fukumura, Yumi Habata, Sachiko Miyamoto, Mitsuko Nakashima, Shigeo Takashima, Yukihiko Kawasaki, Nobuyuki Shimozawa, Hirotomo Saitsu

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

Article in Child neurology open. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 40% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. One novelFrontiers in pediatrics · 2025
    Article
  3. [Research advances in the clinical genetics of leukodystrophy in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022
    Review
  4. Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022
    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

9 authors at 4 institutions in 1 country.

Akiyo YamamotoSapporo Medical University School of Medicine, Sapporo, Japan.
Shinobu FukumuraSapporo Medical University School of Medicine, Sapporo, Japan.ORCID https://orcid.org/0000-0001-9829-4833
Yumi HabataHokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan.
Sachiko MiyamotoHamamatsu University School of Medicine, Hamamatsu, Japan.
Mitsuko NakashimaHamamatsu University School of Medicine, Hamamatsu, Japan.
Shigeo TakashimaDivision of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan.
Yukihiko KawasakiSapporo Medical University School of Medicine, Sapporo, Japan.
Nobuyuki ShimozawaDivision of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan.
Hirotomo SaitsuHamamatsu University School of Medicine, Hamamatsu, Japan.
Hamamatsu University School of Medicine · JPSapporo Medical University · JPGifu University · JPNational Hospital Organization Hokkaido Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

D-bifunctional protein (DBP) deficiency is a peroxisomal disorder with a high degree of phenotypic heterogeneity. Some patients with DBP deficiency develop progressive leukodystrophy in childhood. We report a 6-year-old boy with moderate hearing loss who presented with developmental regression. Brain magnetic resonance imaging demonstrated progressive leukodystrophy. However, very long chain fatty acids (VLCFAs) in the plasma were at normal levels. Whole-exome sequencing revealed compound heterozygous variants in

Indexed as

D-bifunctional protein deficiencyHSD17B4leukodystrophyperoxisomal diseasesensorineural hearing lossvery long chain fatty acids

Identifiers

PMID34660840
PMCPMC8512218
OpenAlexW3205366290

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.