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A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family

Neurogenetics(2025)10.1007/s10048-025-00814-xSource: DataRank Database

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family is a research paper published in Neurogenetics (2025). On theSindex it has a DataRank of 0. It has been cited 2 times.

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Open Access2 citations

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Enrichment:Funding (4 grants)OA: greenTopics (21)IDs (PubMed, PMC)Annotations (2)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (15)

Abdoulaye Arama,Abdoulaye Yalcouyé ORCID,Mohamed Albakaye,Ji Weizhen,Salia Bamba ORCID

Live enrichment

PubMed:40067424 PMC:PMC12151985

National Institutes of Health

Grant: 5R01NS118522

NHGRI NIH HHS

Grant: U01 HG007044

NINDS NIH HHS

Grant: R01 NS118522

National Institutes of Health

Grant: 5R01NS118522-05

Genetics of Epilepsy in Mali (GENEP-Mali)

greenLicense: Springer Nature TDM

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12151985

publisherhttps://link.springer.com/content/pdf/10.1007/s10048-025-00814-x.pdf

publisherhttps://link.springer.com/article/10.1007/s10048-025-00814-x

https://doi.org/10.1007/s10048-025-00814-x

https://pubmed.ncbi.nlm.nih.gov/40067424

Fields of Study

0303 health sciences03 medical and health sciences

MeSH Terms

HumansLeukodystrophy, MetachromaticCerebroside-SulfatasePedigreePhenotypeMutationInfant

Keywords

AfricaMaliMetachromatic LeukodystrophyArsaNovel VariantPhenotypeMutationHumansInfantLeukodystrophy, MetachromaticCerebroside-SulfatasePedigree

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family

FAIR Checklist

Authors (15)

Funding (4 grants)

Open Access

Topics

Annotations (Europe PMC)