RETROSPECTIVE EVALUATION OF SPECIFIC AMINO ACID RATIOS FOR SCREENING AND DIAGNOSTIC UTILITY FOR PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDCD) AND OTHER MITOCHONDRIAL DISORDERS (MTDS)

Autor: Lehman, April, Verma, Anisha, Cropcho, Lorna, Black, Danielle, Dobrowolski, Steven, Vockley, Jerry, Bedoyan, Jirair
Zdroj: In Molecular Genetics and Metabolism March 2023 138(3)
Databáze: ScienceDirect