• A Case of End-Stage Renal Disease with Joubert Syndrome due to CEP290 Mutation

• Kim Sung-Hoon

• Lee Sang-Taek, Seong Moon-Woo, Kim Man-Jin, Lee Jun-Hwa

• Journal of the Korean Society of Inherited Metabolic Disease   2020  Volume.20  No.1 29 ~ 35

• A Case of Glycogen Storage Disease Type III Diagnosed by Gene Panel Sequencing

• Kim Seong-Wan

• Jang Ju-Young, Lee Jang-Hoon, Sohn Young-Bae, Jang Ja-Hyun

• Journal of the Korean Society of Inherited Metabolic Disease   2020  Volume.20  No.1 24 ~ 28

• Galactosemia: A Korean Patient and Literature Review

• Yu Seung-Woo

• Gang Mi-Hyeon, Lee Yong-Wook, Chang Mea-Young, Levy Harvey L., Kim Sook-Za

• Journal of the Korean Society of Inherited Metabolic Disease   2020  Volume.20  No.1 14 ~ 23

• Inhibitory Action of a Histone Deacetylase 6 Inhibitor on Glucosylceramide- and Glucosylsphingosine-...

• Jung Nam-Hee

• Nam Yu-Hwa, Park Sae-Young, Kim Ji-Yeon, Jung Sung-Chul

• Journal of the Korean Society of Inherited Metabolic Disease   2020  Volume.20  No.1 1 ~ 13