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Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12738Source: DataRank Database

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy is a research paper published in Journal of Inherited Metabolic Disease (2024). On theSindex it has a DataRank of 0. It has been cited 9 times.

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Enrichment:Funding (4 grants)OA: bronzeTopics (29)IDs (PubMed, PMC)Annotations (1)

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Authors (12)

Dongseok Choi ORCID,Ashley Gregor,Nida Wongchaisuwat,Danielle Black,Hannah L. Scanga ORCID

Live enrichment

PubMed:38623632 PMC:PMC11251862

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Grant: R01HD095968

National Center for Advancing Translational Sciences

Grant: UL1TR000128

National Center for Advancing Translational Sciences

Grant: UL1TR001857

NCATS NIH HHS

Grant: UL1 TR002369

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

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jimd.12738

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12738

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11251862/pdf/nihms-1982548.pdf

MeSH Terms

HumansMuscular DiseasesMitochondrial MyopathiesRhabdomyolysisNervous System DiseasesRetinal DiseasesCardiomyopathiesLipid Metabolism, Inborn Errors3-Hydroxyacyl CoA DehydrogenasesCarnitineElectroretinographyNeonatal ScreeningEarly DiagnosisTreatment OutcomeVisual AcuityAdolescentAdultChildChild, PreschoolInfantInfant, NewbornFemaleMaleYoung AdultMitochondrial Trifunctional Protein

Keywords

ChorioretinopathyNewborn ScreeningLong‐chain 3‐Hydroxyacylcoa Dehydrogenase DeficiencyLong‐chain Fatty Acid Oxidation Disorder

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

FAIR Checklist

Authors (12)

Funding (4 grants)

Open Access

Topics

Annotations (Europe PMC)