Iranian Journal of Pediatrics

Published by: Kowsar

A Case of Early Diagnosis of Pyruvate Dehydrogenase Complex Deficiency: The Use of Next-Generation Sequencing

Ju Hee Kim 1 , Hye-Rim Kim 1 , * , Ja Hyun Jang 2 , Heui Seung Jo 1 and Kyu Hyung Lee 1
Authors Information
1 Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea
2 Department of Laboratory Medicine, Green Gross Genome, Yongin, Korea
Article information
  • Iranian Journal of Pediatrics: 29 (2); e84965
  • Published Online: February 20, 2019
  • Article Type: Case Report
  • Received: October 5, 2018
  • Revised: January 5, 2019
  • Accepted: January 8, 2019
  • DOI: 10.5812/ijp.84965

To Cite: Kim J H , Kim H, Jang J H , Jo H S , Lee K H . A Case of Early Diagnosis of Pyruvate Dehydrogenase Complex Deficiency: The Use of Next-Generation Sequencing, Iran J Pediatr. Online ahead of Print ; 29(2):e84965. doi: 10.5812/ijp.84965.

Copyright © 2019, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
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