• A Case of Hunter Syndrome Diagnosed at 7 Months of Age by Exome Sequencing

• Song A-Ri

• Lee Jin-Sung, Im Min-Ji, Park Hyung-Doo, Cho Sung-Yoon, Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.2 62 ~ 67

• A Case of Ornithine Transcarbamylase Deficiency in a Boy with Neonatal Seizure and Altered Mentality

• Im Min-Ji

• Song A-Ri, Lee Soo-Youn, Park Hyung-Doo, Cho Sung-Yoon, Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.2 55 ~ 61

• Two Cases of Methylmalonic Acidemia where Refusal to Blood Transfusion Led to Death

• Jang Ha-Won

• Lee Yong-Wok, Jang Mi-Young, Kil Hong-Ryang, Kim Sook-Za

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.2 50 ~ 54

• A Newborn Case of Maple Syrup Urine Disease Type 1B Presenting with Lethargy and Central Apnea

• Kang Young-Tae

• Choi Sung-Hwan, Ko Jung-Min, Shin Seung-Han, Kim Ee-Kyung, Kim Han-Suk

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.2 43 ~ 49

• 18-year Follow-up of Extended Newborn Screening for Metabolic and Endocrine Disorders

• Song Woong-Ju

• Lee Sun-Ho, Jeon Young-Mi, Kim Sook-Za, Jang Mi-Young

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.2 35 ~ 42