• 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

• 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

• A Patient with Propionic Acidemia with a Novel mutation who was Successfully Managed by Home Care-Ba...

• Yang A-Ram

• Nam Soon-Young, Kim Jin-Sup, Kim Hyun-Young, Park Hyung-Doo, Jin Dong-Kyu, Cho Sung-Yoon

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.1 52 ~ 56

• A Case of Neonatal Onset Propionic Acidemia with Mild Clinical Presentations

• Kim Kyung-Ran

• Kim Jin-Sup, Huh Rimm, Park Hyung-Doo, Cho Sung-Yoon, Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.1 47 ~ 51

• Neonatal Onset Isovaleric Acidemia with Novel Mutation

• Kim Young-Han

• Bae Eun-Joo, Park Hyung-Doo, Lee Hong-Jin

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.1 42 ~ 46

• A Case of Adult-onset Type II Citrullinemia Confirmed by Mutation of SLC25A13

• Jeung Min-Sub

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

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.1 34 ~ 41

• Clinical Features, Molecular Analysis, and Outcome of ERT in Korean Patients with Mucopolysaccharido...

• Wichajarn Khunton

• Kim Jin-Sup, Yang A-Ram, Sohn Young-Bae, Lee Beom-Hee, Yoo Han-Wook, Cho Sung-Yoon, Jin Do...

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.1 24 ~ 33

• Investigation of False Positive Rates Newborn Screening using Tandem Mass Spectrometry (TMS) Technol...

• Kim Hyun-Soo

• Shin Son-Moon, Ko Sun-Young, Lee Yeon-Kyung, Park Sung-Won

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.1 18 ~ 23

• The Diagnosis and Assessment of 3-methylglutaconic Acidurias

• Kim Ja-Hye

• Journal of the Korean Society of Inherited Metabolic Disease   2016  Volume.16  No.1 10 ~ 17