Open AccessA Case of Early Diagnosis of Pyruvate Dehydrogenase Complex Deficiency: The Use of Next-Generation Sequencing
Author(s) -
Ju Hee Kim,
Hyerim Kim,
Ja Hyun Jang,
Heui Seung Jo,
Kyu Hyoung Lee
Publication year - 2019
Publication title -
iranian journal of pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.168
H-Index - 25
eISSN - 2008-2150
pISSN - 2008-2142
DOI - 10.5812/ijp.84965
Subject(s) - medicine , lactic acidosis , pyruvate dehydrogenase complex , metabolic acidosis , newborn screening , pediatrics , biochemistry , enzyme , chemistry