• The Ornithine Transcarbamylase (OTC) Deficiency Identified by a Novel Mutation

• Song A-Ri

• Lee Ki-Wuk, Yang A-Ram, Kim Jin-Sup, Park Hyung-Doo, Cho Sung-Yoon, Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.3 148 ~ 154

• A Case with Perinatal Hypophosphatasia Caused by the ALPL Mutations

• Kim Joon-Il

• Kang Eun-Gu, Kim Yoon-Myung, Lee Beom-Hee, Kim Gu-Hwan, Yoo Han-Wook

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.3 141 ~ 147

• Clinical and Laboratory Characteristics of Galactokinase Hyperactivity

• Yang Seung-Do

• Lee Jeong-Ho, Shin Young-Lim, Lee Dong-Hwan, Hong Young-Hee

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.3 135 ~ 140

• Mitochondrial Disease: Will it become a New Great Imitator?

• Kim Young-Han

• Ahn Seok-Min, Seo Young-Jun, Yoon Jong-Hyung, Bae Eun-Joo, Lee Hong-Jin

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.3 123 ~ 134

• A New Treatment Option for Gaucher Disease Type 1: Substrate Reduction Therapy

• Sohn Young-Bae

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.3 117 ~ 122