• A Case of Carbamoyl Phosphate Synthetase 1 Deficiency with Novel Mutations in CPS1 Treated by Liver ...

• Lee Ji-Sun

• Yang A-Ram, Kim Jin-Sup, Park Hyung-Doo, Lee Sang-Hoon, Lee Suk-Koo, Cho Sung-Yoon, Jin Do...

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.1 31 ~ 37

• A Case of Gorham-Stout Disease with Life-threatening Chylothorax Successfully Treated with the Combi...

• Ryu Kyung-Guk

• Seo Go-Hun, Kim Yoon-Myung, Choi Jin-Ho, Yoo Han-Wook, Lee Beom-Hee

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.1 24 ~ 30

• Long-term Clinical Course of a Korean Girl with ¥â-ureidopropionase Deficiency

• Song Woo-Sun

• Park Young-Jin, Lee Jun-Hwa

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.1 18 ~ 23

• Ten Cases of R53H Variant of PAH Gene in Benign Hyperphenylalaninemia

• Lee Ji-Yun

• Lee Jeong-Ho, Lee Dong-Hwan

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.1 11 ~ 17

• The Perception and Emotional Experiences of Rare and Intractable Diseases in Caregivers and Pediatri...

• Eom So-Yong

• Lee Joo-Young, Hyun Ji-Ah, Lee Young-Mock

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.1 1 ~ 10