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Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12735Source: DataRank Database

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency is a research paper published in Journal of Inherited Metabolic Disease (2024). On theSindex it has a DataRank of 0. It has been cited 5 times.

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Scored on demand from live citation data

Open Access5 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (7 grants)Impact (FWCI 1.35)OA: bronzeTopics (40)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

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 (7)

Itay Tokatly Latzer ORCID,Mariarita Bertoldi ORCID,Guangping Gao ORCID,Phillip L. Pearl ORCID,Mustafa Sahin ORCID

Live enrichment

PubMed:38581234 PMC:PMC11096052 OpenAlex:https://openalex.org/W4394013012

BCH

Grant: R21NS121858

National Institute of Health (NIH) Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)

Grant: P50HD105351

National Institute of Health (NIH) Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)

Grant: R01HD091142

SSADH Association

Grant: N/A

BCH

Translational Research Program (TRP)

Boston Children's Hospital

FWCI

1.35

Citation Percentile

0.8%

Citation Trend

2024

2025

2026

bronzeLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jimd.12735

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jimd.12735

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12735

journalhttps://doi.org/10.1002/jimd.12735

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38581234

Fields of Study

Metabolism and Genetic DisordersGenetic Neurodegenerative DiseasesBiochemical and Molecular Research

MeSH Terms

Amino Acid Metabolism, Inborn ErrorsAnimalsHumansSynaptic TransmissionGenetic TherapySuccinate-Semialdehyde Dehydrogenase

Keywords

Adenosine deaminase deficiencyGenetic enhancementNeuroscienceNeurotransmissionBioinformaticsEnzyme replacement therapyGeneMedicineBiologyGeneticsDiseaseInternal medicineReceptorEpilepsyGABANeurodevelopmentAutosomal dominantProtein interactionAAVPromotersGene ExpressionAutosomal RecessiveDisease ModelingKcc2Dravet SyndromeHaploinsufficiencyGenetic InheritanceAldh5a1Delivery RouteSlc6a1Viral vector

Sustainable Development Goals

SDG 0: Good health and well-being

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

FAIR Checklist

Authors (7)

Funding (7 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)