• A Case of Citrin Deficiency Presenting with Recurrent Hypoglycemia: Diagnosed by Targeted Exome Sequ...

• Kim Chi-Woo

• Hwang Jeong-Yun, Yang A-Ram, Kim Jin-Sup, Lee Tae-Heon, Jang Ja-Hyun, Cho Sung-Yoon, Jin D...

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 69 ~ 76

• A Case of a 2-year-old Girl with Type I Gaucher Disease Presenting with Growth Retardation and Leg P...

• Park Ye-Sul

• Hwang Jae-Yeon, Hwang Eun-Ha, Cheon Chong-Kun, Lee Beom-Hee, Yoo Han-Wook, Kim Yoo-Mi

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 63 ~ 68

• A Case of an 18-month-old Boy with Type 3 Gaucher Disease Presenting with Hepatosplenomegaly and Gro...

• Lim Young-Shin

• Hwang Jeong-Yun, Kim Jin-Sup, Yang A-Ram, Park Hyung-Doo, Jeon Tae-Yeon, Cho Sung-Yoon, Ji...

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 55 ~ 62

• Molecular Genetic Analysis in Dystroglycanopathy with the Fukuyama Congenital Muscular Dystrophy Phe...

• Cha Myung-Jin

• Shin Jae-Eun, Kim Se-Hoon, Lee Min-Jung, Lee Chul-Ho, Lee Young-Mock

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 48 ~ 54

• A Sensitive Determination of Plasma Free Fatty Acids Following Tert-butyldimethylsilyl Derivatizatio...

• Yoon Hye-Ran

• Thapa Maheshwor

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 39 ~ 47