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Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

Annals of Clinical and Translational Neurology(2021)10.1002/acn3.51272Source: DataRank Database

Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings is a research paper published in Annals of Clinical and Translational Neurology (2021). On theSindex it has a DataRank of 0. It has been cited 17 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access17 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (2 grants)Impact (FWCI 0.89)OA: goldTopics (35)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 (12)

Sonal Mahida ORCID,Parul Jayakar ORCID,Hyun Yong Koh,Alan Taylor ORCID,Trevor Resnick

Live enrichment

PubMed:33497533 PMC:PMC7951104 OpenAlex:https://openalex.org/W3122944664

NINDS NIH HHS

Grant: K08NS118107-01

NINDS NIH HHS

Grant: K08 NS118107

FWCI

0.89

Citation Percentile

0.7%

Citation Trend

2021

2022

2023

2024

2025

2026

goldLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.51272

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.51272

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51272

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.51272

journalhttps://doi.org/10.1002/acn3.51272

Fields of Study

Biochemical and Molecular ResearchMetabolism and Genetic DisordersFolate and B Vitamins Research

MeSH Terms

Drug Resistant EpilepsyAspartate CarbamoyltransferaseAtrophyCarbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)Cerebellar DiseasesChildDevelopmental DisabilitiesChild, PreschoolDihydroorotaseFemaleHumansMalePedigreeUridineDisease ProgressionSiblings

Keywords

MedicineUridineAtrophyIntractable epilepsyPediatricsEncephalopathyEpilepsyInternal medicineBioinformaticsPathologyNeuroscienceGeneGeneticsPsychiatryRNABiology

Sustainable Development Goals

SDG 0: Good health and well-being