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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Molecular Genetics & Genomic Medicine(2024)10.1002/mgg3.2443Source: DataRank Database

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database is a research paper published in Molecular Genetics & Genomic Medicine (2024). On theSindex it has a DataRank of 0. It has been cited 12 times.

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Open Access12 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (3 grants)Impact (FWCI 3.27)OA: goldTopics (47)IDs (PubMed, PMC, OpenAlex)SDGs (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 (8)

Rima Izem ORCID,Yuelin Long,Jiji Jiang ORCID,Laura Konczal ORCID,Robert McCarter ORCID

Live enrichment

PubMed:38634223 PMC:PMC11024633 OpenAlex:https://openalex.org/W4394917929

NICHD NIH HHS

Grant: U54 HD061221

National Institutes of Health

Grant: 5U54HD061221-08

Training (Career Development) Component

Kettering Fund

FWCI

3.27

Citation Percentile

0.9%

Citation Trend

2024

2025

2026

goldLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.2443

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.2443

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2443

journalhttps://doi.org/10.1002/mgg3.2443

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38634223

Fields of Study

Metabolism and Genetic DisordersFolate and B Vitamins ResearchMitochondrial Function and Pathology

MeSH Terms

AdolescentFemaleHumansLongitudinal StudiesMiddle AgedQuality of LifeRetrospective StudiesDatabases, FactualOrnithine Carbamoyltransferase Deficiency DiseaseHyperammonemiaUrea Cycle Disorders, InbornAsymptomatic Diseases

Keywords

AsymptomaticProbandMedicineNeuroimagingPediatricsUrea cycleInternal medicinePsychiatryMutationBiologyGeneticsFunctional MRIprefrontal cortexHyperammonemiaDiffusion Tensor Imagingmagnetic resonance spectroscopyUrea Cycle DisorderOrnithine Transcarbamylase DeficiencyUrea Cycle Disorders ConsortiumFunctional Near‐infrared SpectroscopyAdolescentDatabases, FactualOriginal ArticlesQH426-470Middle AgedOrnithine Carbamoyltransferase Deficiency DiseaseAsymptomatic DiseasesHumansFemaleLongitudinal StudiesUrea Cycle Disorders, InbornRetrospective Studies

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being