• A Case of Lethal Neonatal Type Carbamoyl Phosphate Synthetase 1 Deficiency with Novel Mutation of CP...

• Suh Seung-Hyun

• Kim Yoo-Mi, Byun Shin-Yun, Son Seung-Kook, Kim Seong-Heon, Kim Hyung-Tae, Kim Gu-Hwan, Yoo...

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.2 109 ~ 114

• Two Cases of MELAS Syndrome Manifesting Variable Clinical Courses

• Choi Seo-Yeol

• Lee Seung-Ho, Myung Na-Hye, Lee Young-Seok, Yu Jee-Suk

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.2 102 ~ 108

• The Clinical and Genetic Characteristics of Three Korean Patients with Glycogen Storage Disease Type...

• Lee Sung-Hee

• 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.2 93 ~ 101

• A Study on Effectiveness of Conventional Phenylalanine Loading before BH4 Loading Test in Children w...

• Park Young-Cheon

• Kim Kang-In, Lee Jeong-Ho, Lee Dong-Hwan

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.2 86 ~ 92

• Clinical Manifestations and Gene Analysis of Patients with Benign Hyperphenylalaninemia

• Lee Jeong-Eun

• Lee Jeong-Ho, Lee Dong-Hwan

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.2 79 ~ 85

• A Diagnostic Algorithm after Newborn Screening for 21-hydroxylase Deficiency

• Cho Sung-Yoon

• Ko Jung-Min, Lee Kyung-A

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.2 70 ~ 78

• A Diagnostic Algorithm of Newborn Screening for Elevated Citrulline

• Hong Young-Hee

• Ko Jung-Min, Lee Kyung-A

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.2 62 ~ 69

• The Strategy for Diagnosis and Treatment of Isovaleric Acidemia

• Ko Jung-Min

• Lee Kyung-A

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.2 57 ~ 61