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Molecular Genetics and Metabolism Reports|July 5, 2022
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome AYoung Bae Sohn, Curtis Rogers, Jennifer Stallworth, et al.International Journal of Hematology|November 21, 2018
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemiaEun Ah Kim, Young Tae Lim, Jeong Ok Hah, et al.International Journal of Hematology|January 12, 2019
Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemiaEun Ah Kim, Young Tae Lim, Jeong Ok Hah, et al.Molecular Genetics and Metabolism|May 20, 2014
Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysisSang-Chol Lee, Jieun Lee, Dong-Kyu Jin, et al.American Journal of Medical Genetics. Part A|November 26, 2010
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysisYoung Bae Sohn, Su Jin Kim, Sung Won Park, 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.Annals of Clinical and Laboratory Science|September 12, 2012
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiencyYoung Bae Sohn, Chang-Seok Ki, Sung Won Park, et al.American Journal of Medical Genetics. Part A|February 13, 2013
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVAHyung-Doo Park, Ah-Ra Ko, Chang-Seok Ki, et al.Journal of Human Genetics|September 6, 2013
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type IISo Yoon Ahn, Yun Sil Chang, Dong Kyung Sung, et al.Korean Journal of Pediatrics|September 15, 2012
Continuous renal replacement therapy in neonates weighing less than 3 kgYoung Bae Sohn, Kyung Hoon Paik, Hee Yeon Cho, et al.Pageof 9