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Journal of the Korean Society of Inherited Metabolic Disease
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1
A Case Report of Novel Mutation in GNP in Two Siblings with Mucolipidosis Type III Alpha/beta
Kim Min-Sun
Park Esther, Song A-Ri, 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.3 99 ~ 106
2
A Case of Mitochondrial Respiratory Chain Defect with Progressive Bilateral Cararacts
Lee Soon-Ie
Lee Young-Mock
Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No.3 95 ~ 98
3
A Case of Progressive FSGS and Chronic Kidney Disease in Congenital Chloride Diarrhea with SLC26A3 M
...
Seo Young-Jun
Cheong Han-Bin, Ahn Seok-Min, Shin Woo-Chul, Bae Eun-Joo, Yoon Jong-Hyung, Jeong Hwal-Rim, 
...
Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No.3 87 ~ 94
4
Clinical Spectrum and Short-term Effects of Enzyme Replacement Therapy for Mucopolysaccharidosis Typ
...
Cheon Chong-Kun
Hwu Wuh-Liang
Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No.3 78 ~ 86
5
Defects in Ketone Body Metabolism and Pregnancy
Fukao Toshiyuki
Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No.3 69 ~ 77