ArticleMetabolic brain disease2016
Novel mutation in an Egyptian patient with infantile Canavan disease.
Article in Metabolic brain disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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.
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.
Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Homozygous Paternally InheritedMolecular syndromology · 2024Article
- Computational modelling approaches as a potential platform to understand the molecular genetics association between Parkinson's and Gaucher diseases.Metabolic brain disease · 2018Article
- Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.Metabolic brain disease · 2017Article
- Clinical and Genetic Characteristics of Leukodystrophies in Africa.Journal of neurosciences in rural practice · 2017Review
- Two patients with Canavan disease and structural modeling of a novel mutation.Metabolic brain disease · 2017Article
- Structural modeling of p.V31F variant in the aspartoacylase gene.Metabolic brain disease · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA. It is a severe progressive leukodystrophy characterized by spongiform degeneration of the white matter of the brain. CD occurs frequently among Ashkenazi Jewish population, however it has been reported in many other ethnic groups with significantly lower frequency. Here, we report on a 2 year-old Egyptian child with severe CD who harbors a novel homozygous missense variant (c.91G > T, p.V31F) in the ASPA gene. The clinical, radiological, and molecular genetic profiles are reviewed in details.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.