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Utility of Specific Amino Acid Ratios in Screening for Pyruvate Dehydrogenase Complex Deficiencies and Other Disorders Associated with Lactic Acidosis

Jirair Bedoyan,Rosemary Hage,Ha Kyung Shin,Sharon Linard,Edwin Ferren,Nicole Ducich,Kirkland Wilson,April Lehman,Lori-Anne Schillaci,Kandamurugu Manickam,Mari Mori,Dennis Bartholomew,Suzanne DeBrosse,Bruce Cohen,Sumit Parikh,Douglas Kerr

JIMD Reports（2020）

引用 11|浏览2
关键词
alanine,ketogenic amino acids,ketogenic diet,lactic acidosis,mitochondrial disorder,newborn screening
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