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Molecular Genetics and Metabolism|February 10, 2016
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis IIAh-Ra Ko, Dong-Kyu Jin, Sung Yoon Cho, et al.Orphanet Journal of Rare Diseases|July 9, 2026
Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfaseMinji Im, Ari Song, Hyojung Park, et al.American Journal of Medical Genetics. Part A|May 14, 2026
Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic FindingsYiyoung Kwon, Sukyung Kim, Yoon Zi Kim, et al.Korean Journal of Pediatrics|September 28, 2011
The metabolic syndrome and body composition in childhood cancer survivorsYoung Bae Sohn, Su Jin Kim, Sung Won Park, et al.Nanoscale|January 30, 2026
A functionalization-free plasmonic hole-sphere nanogap SERS platform for reliable on-site analysis and oxide-state classificationMinjun Kim, Damun Heo, Sung Yoon Cho, et al.Korean Journal of Pediatrics|November 8, 2012
LIN28B polymorphisms are associated with central precocious puberty and early puberty in girlsSung Won Park, Seung-Tae Lee, Young Bae Sohn, et al.Journal of Korean Medical Science|July 2, 2015
Disease-specific Growth Charts of Marfan Syndrome Patients in KoreaYounghee Kwun, Su Jin Kim, Jieun Lee, et al.Journal of Inherited Metabolic Disease|July 7, 2018
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathologyYoung Bae Sohn, Ah-Ra Ko, Mi-Ran Seong, et al.American Journal of Medical Genetics. Part A|November 23, 2011
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality casesYoung Bae Sohn, Eun Wha Choi, Su Jin Kim, et al.Journal of Korean Medical Science|February 20, 2014
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome)Sung Yoon Cho, Rimm Huh, Mi Sun Chang, et al.Pageof 12