• A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Ge...

• Park Su-Jin

• Ahn Moon-Bae, Jang Woo-Ri, Cho Won-Kyung, Chae Hyo-Jin, Kim Myung-Shin, Suh Byung-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.3 103 ~ 108

• Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing

• Sohn Young-Bae

• Jang Joo-Young, Lee Da-Keun, Jang Ja-Hyun

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.3 96 ~ 102

• Improved Acroparesthesia During Enzyme Replacement Therapy in a Patient Lately Diagnosed with Fabry ...

• Yang A-Ram

• Kim Jin-Sup, Cho Sung-Yoon, Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.3 92 ~ 95

• Comparison of Clinical Features of 11 Korean Patients with Mucolipidosis II and III Including a Case...

• Kim Jin-Sup

• Yang Mi-Sun, Yang A-Ram, Cho Eun-Hye, Park Hyung-Doo, Sohn Young-Bae, Cho Sung-Yoon, Jin D...

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.3 85 ~ 91

• 10-year Analysis of Inherited Metabolic Diseases Diagnosed with Tandem Mass Spectrometr

• Lee Bo-Mi

• Lee Ji-Yun, Lee Jeong-Ho, Kim Suk-Young, Kim Jong-Won, Min Won-Ki, Song Woon-Heung, Song J...

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.3 77 ~ 84

• A Case of Citrin Deficiency Presenting with Recurrent Hypoglycemia: Diagnosed by Targeted Exome Sequ...

• Kim Chi-Woo

• Hwang Jeong-Yun, Yang A-Ram, Kim Jin-Sup, Lee Tae-Heon, Jang Ja-Hyun, Cho Sung-Yoon, Jin D...

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 69 ~ 76

• A Case of a 2-year-old Girl with Type I Gaucher Disease Presenting with Growth Retardation and Leg P...

• Park Ye-Sul

• Hwang Jae-Yeon, Hwang Eun-Ha, Cheon Chong-Kun, Lee Beom-Hee, Yoo Han-Wook, Kim Yoo-Mi

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 63 ~ 68

• A Case of an 18-month-old Boy with Type 3 Gaucher Disease Presenting with Hepatosplenomegaly and Gro...

• Lim Young-Shin

• Hwang Jeong-Yun, Kim Jin-Sup, Yang A-Ram, Park Hyung-Doo, Jeon Tae-Yeon, Cho Sung-Yoon, Ji...

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 55 ~ 62

• Molecular Genetic Analysis in Dystroglycanopathy with the Fukuyama Congenital Muscular Dystrophy Phe...

• Cha Myung-Jin

• Shin Jae-Eun, Kim Se-Hoon, Lee Min-Jung, Lee Chul-Ho, Lee Young-Mock

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 48 ~ 54

• A Sensitive Determination of Plasma Free Fatty Acids Following Tert-butyldimethylsilyl Derivatizatio...

• Yoon Hye-Ran

• Thapa Maheshwor

• Journal of the Korean Society of Inherited Metabolic Disease   2017  Volume.17  No.2 39 ~ 47

• 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