The First Case of Korean Boy with Mitochondrial Trifunctional Protein Deficiency Diagnosed by Acylcarnitine Profiles and DNA analysis : A Novel Mutation in the α-subunit of the Mitochondrial Trifunctional Protein and a Unusual Intergenic Sequence with Two Polymorphisms

• Lee, Ji-Eun (Department of Pediatrics, College of Medicine, Inha University) ;
• Yoon, Hye-Ran (Metabolic Disease Detection Laboratory, Seoul Medical Science Institute) ;
• Paik, Kyung Hoon (Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center) ;
• Hwang, Jong Hee (Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center) ;
• Hwang, Soo-Jung (Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center) ;
• Shim, Jae-Won (Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center) ;
• Chang, Yun-Sil (Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center) ;
• Park, Won-Soon (Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center) ;
• Strauss, Arnold W. (Department of Pediatrics, Vanderbilt University) ;
• Jin, Dong-Kyu (Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center)

• Published : 2002.07.05

• PDF