• Hong Young-Hee

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 195 ~ 199

• A Patient with Mitochondrial Myopathy who Experienced Diabetic Ketoacidosis with Auto-antibo

• Nam Soon-Young

• Huh Rimm, Kwun Young-Hee, Lee Ji-Eun, Cho Sung-Yoon, Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 191 ~ 194

• A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A1...

• Sohn Young-Bae

• Jang Joo-Young, Park Hyung-Doo, Lee Soo-Youn

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 186 ~ 190

• Type 2 GM1 Gangliosidosis Presented with Developmental Regression: A Case Report

• Ko Jung-Min

• Cho Tae-Joon, Chae Jong-Hee

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 182 ~ 185

• A Case of Hunter Syndrome Diagnosed at Age of 2.5 Year

• Choi Mi-Ran

• Kwun Young-Hee, Jin Dong-Kyu, Lee Ji-Eun

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 178 ~ 181

• A Novel Mutation in the MUT Gene in an Asymptomatic Newborn with Isolated Methylmalonic Acidemia

• Kwak Min-Jung

• Kim Yoo-Mi

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 174 ~ 177

• A Case of Vascular Ehlers-Danlos Syndrome with Novel Mutation c.2931+2dupT in COL3A1 Gene

• Yoon You-Min

• Kim Dong-Chan, Kang Min-Jae

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 168 ~ 173

• A DiGeorge Syndrome with both Basal Ganglia Calcification with 22q11.2 Deletion

• Kim Young-Han

• Choi Joong-Wan, Ryu Hye-Won, Bae Eun-Ju, Oh Phil-Soo, Lee Hong-Jin

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 163 ~ 167

• A Case of Early Diagnosed Hunter Syndrome Detected by Large Head on Routine Examination

• Lee Seung-Ho

• Park Woo-Sung, Lee Young-Seok, Yu Jee-Suk

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 156 ~ 162

• Analysis and Cut-off Adjustment of Dried Blood Spot 17alpha-hydroxyprogesterone Concentration by Bir...

• Park Seung-Man

• Kwon Ae-Rin, Yang Song-Hyun, Park Eun-A, Choi Jae-Hwang, Hwang Mi-Jung, Nam Hyeon-Gyeong, ...

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 150 ~ 155

• Clinical findings of Glycogen Disease Type Ia Patients in Korea

• Park Min-Ju

• Ahn Hee-Jae, Lee Jeong-Ho, Lee Dong-Hwan

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 142 ~ 149

• Park Hyung-Doo

• Cho Sung-Yoon, Lee Soo-Youn, Jeon Eun-Seok, Park Seung-Woo, Lee Sang-Hoon, Lee Sang-Chol, ...

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 135 ~ 141

• Systematic Approach for the Diagnosis of IEM

• Lee Hong-Jin

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.2 123 ~ 134

• Kim Yoo-Mi

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.1 122 ~ 122

• Lee Jeong-Ho

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.1 119 ~ 121

• Pompe Disease: Long Term Management & Unmet Needs

• Ko Jung-Min

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.1 97 ~ 118

• Long-term Effectiveness of Enzyme Replacement Therapy in Fabry Disease

• Kim Ja-Hye

• Cho Ja-Hyang, Choi Jin-Ho, Leel Beom-Hee, Yoo Han-Wook

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.1 96 ~ 96

• Sohn Young-Bae

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.1 95 ~ 95

• Inborn Errors of Metabolism with Bony Manifestation

• Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.1 94 ~ 94

• Shin Young-Lim

• Journal of the Korean Society of Inherited Metabolic Disease   2014  Volume.14  No.1 90 ~ 93