Evidence map›Paper›PMID 26664442›Full record

ArticleIranian journal of child neurology2015

A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

Mahmoudreza Ashrafi, Alireza Tavasoli, Pegah Katibeh, Omid Aryani, Mohammad Vafaee-Shahi

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PubMed Full text at PMC
In one paragraph

Article in Iranian journal of child neurology, 2015. 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
0.5field-weighted citation impact, top 31% 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, 7 citations in OpenAlex.

  1. Homozygous Paternally InheritedMolecular syndromology · 2024
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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 1 institution in 1 country.

Mahmoudreza AshrafiPediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
Alireza TavasoliPediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
Pegah KatibehPediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
Omid AryaniDepartment of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
Mohammad Vafaee-ShahiPediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
National Institute of Genetic Engineering and Biotechnology · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non-Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA gene identified from an Iranian patient. To our knowledge, this type of mutation has not been reported in non-Jewish population in the literature.

Indexed as

ASPA geneAspartoacylase deficiencyAspartoacylase enzymeCanavan disease

Identifiers

PMID26664442
PMCPMC4670978
OpenAlexW1871475340

What OpenQuestion holds

Textmetadata
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.