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Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism

Molecular Genetics & Genomic Medicine(2023)10.1002/mgg3.2283Source: DataRank Database

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism is a research paper published in Molecular Genetics & Genomic Medicine (2023). On theSindex it has a DataRank of 0. It has been cited 4 times.

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Enrichment:Funding (4 grants)OA: goldTopics (16)IDs (PubMed, PMC)Annotations (1)

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Authors (8)

April N. Lehman,Hatice Gökcan ORCID,Lorna Cropcho,Danielle Black,Steven F. Dobrowolski ORCID

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PubMed:37688338 PMC:PMC10767461

NIDDK NIH HHS

Grant: R01 DK109907

National Institutes of Health

NIH HHS

ACMG Foundation for Genetic and Genomic Medicine

goldLicense: cc-by-nc-nd

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.2283

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2283

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC10767461/pdf/MGG3-12-e2283.pdf

Europe_PMChttps://europepmc.org/articles/PMC10767461

Europe_PMChttps://europepmc.org/articles/PMC10767461?pdf=render

MeSH Terms

HumansPyruvate Dehydrogenase Complex Deficiency DiseaseMetabolism, Inborn ErrorsAmino AcidsAlanineLeucineProlineChildChild, PreschoolInfantInfant, NewbornBiomarkers

Keywords

BiomarkersInborn Errors Of MetabolismPyruvate Dehydrogenase Complex DeficiencyAmino Acid Ratio Combinations