- Original Article
- 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
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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
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Clin Exp Pediatr. 2019;62(6):224-234. Published online October 4, 2018
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Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center.
Methods: The medical records of 5 Korean... |
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- Prognostic factors in children with extracranial germ cell tumors treated with cisplatin-based chemotherapy
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Jinsup Kim, Na Hee Lee, Soo Hyun Lee, Keon Hee Yoo, Ki Woong Sung, Hong Hoe Koo, Jeong-Meen Seo, Suk-Koo Lee
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Clin Exp Pediatr. 2015;58(10):386-391. Published online October 21, 2015
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Purpose To evaluate the outcomes and prognostic factors in children with extracranial germ cell tumors (GCTs) treated at a single institution. MethodsSixty-six children diagnosed with extracranial GCTs between 1996 and 2012 were included in the study. Primary treatment was surgical excision, followed by six cycles of cisplatin-based chemotherapy. The survival rates were compared according to the International Germ Cell Cancer Cooperative Group... |
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