Evidence map›Paper›PMID 27896102›Full record

ArticleMolecular genetics and metabolism reports2014

Frequency of

Masahisa Kobayashi, Toya Ohashi, Sayoko Iizuka, Eiko Kaneshiro, Takashi Higuchi, Yoshikatsu Eto, Hiroyuki Ida

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. New mutation in Fabry disease: c.448delG, first phenotypic description.Molecular genetics and metabolism reports · 2021
    Article
  2. Article
  3. Article
  4. Article
  5. Fabry disease and its cardiac involvement.Journal of general and family medicine · 2017
    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

7 authors.

Masahisa KobayashiDepartment of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Toya OhashiDepartment of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
Sayoko IizukaDivision of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
Eiko KaneshiroDepartment of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Takashi HiguchiDivision of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
Yoshikatsu EtoAdvanced Clinical Research Center, Institute of Neurological Disorders, Kanagawa, Japan.
Hiroyuki IdaDepartment of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of

Indexed as

Alpha-galactosidase ADe novo mutationFabry diseaseGenetic counselingNovel mutationW340S

Identifiers

PMID27896102
PMCPMC5121308

What OpenQuestion 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 OpenQuestion graph.