Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
Journal Information
Full Title: Mol Genet Genomic Med
Abbreviation: Mol Genet Genomic Med
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTEREST STATEMENT The authors report no conflict of interest."
"FUNDING INFORMATION This research was supported in part by the American College of Medical Genetics (ACMG) Foundation for Genetic and Genomic Medicine's Summer Genetic Scholars and ACMG Summer Scholars travel awards to AV, the Elizabeth Watt PDCD Research Fund as philanthropy to JKB, and NIH 2U54NS078059‐09 RDCRN NAMDC Project 4 grant to JKB. The funders had no role in study design, data collection, analysis, decision to publish, or preparation of the manuscript."
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Last Updated: Aug 05, 2025