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Genetics and Metabolism
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
Min-Sun Kim, Ari Song, Minji Im, June Huh, I-Seok Kang, Jinyoung Song, Aram Yang, Jinsup Kim, Eun-Kyung Kwon, Eu-Jin Choi, Sun-Ju Han, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
Korean J Pediatr. 2019;62(6):224-234.   Published online October 4, 2018
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De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Ha-Su Kim, Jin-Yeong Han, Myo-Jing Kim
Korean J Pediatr. 2015;58(8):313-316.   Published online August 21, 2015
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X-linked recessive myotubular myopathy with MTM1 mutations
Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo
Korean J Pediatr. 2013;56(3):139-142.   Published online March 18, 2013
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Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method
Sook Hyun Nam, Young Bae Son, Bo Lyun Lee, Jeehun Lee, Chang-seok Ki, Munhyang Lee
Korean J Pediatr. 2007;50(9):868-874.   Published online September 15, 2007
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A Case of Prader-Willi Syndrome with FUO Diagnosed at Infancy
Jun Ho Kim, Jin Hwa Jeong, Sung Min Cho
Korean J Pediatr. 2000;43(8):1142-1148.   Published online August 15, 2000
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