• A Case of Galactosemia with Novel Mutation in the GALT Gene

• Kim Shin-Ah

• Shin Young-Lim, Hong Young-Hee

• Journal of the Korean Society of Inherited Metabolic Disease   2013  Volume.13  No.2 126 ~ 130

• Clinical and Endocrine Characteristics of Patients with McCune-Albright Syndrome

• Kwun Yoo-Jin

• Kim Yoo-Mi, Kim Ja-Hye, Choi Jin-Ho, Yoo Han-Wook

• Journal of the Korean Society of Inherited Metabolic Disease   2013  Volume.13  No.2 120 ~ 125

• Effect of Enzyme Replacement Therapy on Growth in Korean Patients with Mucopolysaccharidosis Type I

• Huh Rimm

• Cho Sung-Yoon, Chang Mi-Sun, Lee Ji-Eun, Kwun Young-Hee, Kim Su-Jin, Sohn Young-Bae, Pack ...

• Journal of the Korean Society of Inherited Metabolic Disease   2013  Volume.13  No.2 111 ~ 119

• Clinical Findings and Gene Analysis of BH4 Responsive PKU Patients in Korea

• Lee Min-Hee

• Kim Ji-Won, Lee Jeong-Ho, Lee Dong-Hwan

• Journal of the Korean Society of Inherited Metabolic Disease   2013  Volume.13  No.2 104 ~ 110

• Clinical Findings and Genetic Analysis of Isolated Hypermethioninemia Patients in Korea

• Yoo Sang-Soo

• Rhee Min-Hee, Lee Jeong-Ho, Lee Dong-Hwan

• Journal of the Korean Society of Inherited Metabolic Disease   2013  Volume.13  No.2 98 ~ 103

• Differential Diagnosis of Galactosemia Detected by Neonatal Screening

• Choi Sung-Yoon

• Song Woong-Ju, Lim Han-Hyuk, Kil Hong-Ryang, Kim Sook-Za

• Journal of the Korean Society of Inherited Metabolic Disease   2013  Volume.13  No.2 89 ~ 97

• Distribution of Patients with Mucopolysaccharidosis in East Asia and Current Status and Prospect for...

• Cho Sung-Yoon

• Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2013  Volume.13  No.2 81 ~ 88

• Sudden Infant Death Syndrome and Inborn Metabolic Disorders

• Yoon Hye-Ran

• Journal of the Korean Society of Inherited Metabolic Disease   2013  Volume.13  No.2 75 ~ 80