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Medicine|September 20, 2022
A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry diseaseSoojin Hwang, Beom Hee Lee, Woo-Shik Kim, et al.
Annals of Pediatric Endocrinology & Metabolism|January 18, 2022
Response to growth hormone according to provocation test results in idiopathic short stature and idiopathic growth hormone deficiencyJu Young Yoon, Chong Kun Cheon, Jung Hyun Lee, et al.
Endocrinology and Metabolism (Seoul, Korea)|May 7, 2026
Clinical Characteristics and Follow-up Course of 17α-Hydroxylase/17,20-Lyase Deficiency in Korea: the OUTSPREAD Multicenter StudyKa Young Kim, Sung Yoon Cho, Min Jee Kim, et al.
Journal of Human Genetics|May 22, 2015
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiencyJin-Ho Choi, Beom Hee Lee, Ja Hye Kim, et al.
Orphanet Journal of Rare Diseases|November 12, 2020
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effectsYoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, et al.
Clinical Endocrinology|September 20, 2015
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidismJa Hye Kim, Young-Lim Shin, Seung Yang, et al.
Journal of Clinical Medicine|July 12, 2025
Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South KoreaSoo Yong Lee, Il Young Kim, Sung-Ho Ahn, et al.
Journal of Human Genetics|October 11, 2020
Clinical and molecular spectra of BRAF-associated RASopathyYena Lee, Yunha Choi, Go Hun Seo, et al.
Molecular Medicine (Cambridge, Mass.)|March 3, 2016
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesYoo-Mi Kim, Ja Hye Kim, Jin Choi, et al.
Annals of Pediatric Endocrinology & Metabolism|January 28, 2016
Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and GyeongnamJung Hyun Lee, Yu-Mi Kim, Min Jung Kwak, et al.
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