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Glycoconjugate Journal|May 1, 2014
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndromeYo Kyung Chung, Young Bae Sohn, Jong Mun Sohn, et al.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|January 19, 2017
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosisMina Yang, Sung Yun Cho, Hyung-Doo Park, et al.Journal of Korean Medical Science|April 2, 2015
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher diseaseJin-Ho Choi, Beom Hee Lee, Jung Min Ko, 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.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.Journal of Human Genetics|April 18, 2014
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndromeChong Kun Cheon, Young Bae Sohn, Jung Min Ko, 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.Pageof 9