Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity

por Im, Minji, Song, Ari, Kim, Jiyeon, Kim, Min-Sun, Lee, Sae-Mi, Kim, Mi Jin, Cho, Sung Yoon, Jin, Dong-Kyu
Publicado 2022

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review

por Song, Ari, Im, Minji, Kim, Min-Sun, Noh, Eu Seon, Kim, Chiwoo, Jang, Jahyun, Lee, Sae-Mi, Ki, Chang-Seok, Cho, Sung Yoon, Jin, Dong-Kyu
Publicado 2023

Long-Term Antithyroid Drug Treatment of Graves’ Disease in Children and Adolescents: A 20-Year Single-Center Experience

por Song, Ari, Kim, Su Jin, Kim, Min-Sun, Kim, Jiyeon, Kim, Insung, Bae, Ga Young, Seo, Eunseop, Cho, Young Seok, Choi, Joon Young, Cho, Sung Yoon, Jin, Dong-Kyu
Publicado 2021

Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

por Kim, Min-Sun, Song, Ari, Im, Minji, Huh, June, Kang, I-Seok, Song, Jinyoung, Yang, Aram, Kim, Jinsup, Kwon, Eun-Kyung, Choi, Eu-Jin, Han, Sun-Ju, Park, Hyung-Doo, Cho, Sung Yoon, Jin, Dong-Kyu
Publicado 2019