• Chronic Hereditary Tyrosinemia Type I with Novel Mutation in FAH Gene

• Yang Sung-Min

• Choi Hyo-Won, Kang Yun-Koo, Lee Jin-Sung, Namgoong Mee-Kyung

• Journal of the Korean Society of Inherited Metabolic Disease   2020  Volume.20  No.2 55 ~ 62

• Vici Syndrome with Novel Compound Heterozygous Mutations in EPG5

• Shin Je-Hee

• Lee Hyun-Joo, Lee Young-Mock

• Journal of the Korean Society of Inherited Metabolic Disease   2020  Volume.20  No.2 50 ~ 54

• Hypocalcemic Tetany in a 10-year Old Boy: A Case of Pseudohypoparathyroidism Type 1b due to Paternal...

• Yoo Byung-Min

• Kim Mi-Jin, Ko Jung-Min, Kang Min-Jae

• Journal of the Korean Society of Inherited Metabolic Disease   2020  Volume.20  No.2 44 ~ 49

• Phenylketonuria: Current Treatments and Future Developments

• Lee Jeong-Ho

• Journal of the Korean Society of Inherited Metabolic Disease   2020  Volume.20  No.2 37 ~ 43