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American Journal of Medical Genetics. Part A|November 5, 2011
A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndromeSung Won Park, Seung-Tae Lee, Young Bae Sohn, et al.Korean Journal of Pediatrics|October 26, 2018
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 centerMin-Sun Kim, Ari Song, Minji Im, et al.Annals of Clinical and Laboratory Science|February 18, 2011
Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiencySe Hwa Kim, Hyung-Doo Park, Young Bae Sohn, et al.Epidemiology and Health|January 18, 2022
Development and validation of the Pediatric-Youth Hyperphagia Assessment for Prader-Willi syndromeSung Yoon Cho, Danbee Kang, Minji Im, et al.American Journal of Medical Genetics. Part A|April 13, 2012
Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantationYoung Bae Sohn, Sung Won Park, Se-Hwa Kim, et al.Annals of Clinical and Laboratory Science|August 17, 2011
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidenceSung Yoon Cho, Young Pyo Chang, Ji Yun Park, et al.Endocrinology and Metabolism (Seoul, Korea)|May 26, 2026
Clinical Characteristics and Outcomes of Korean Patients with Lipoid Congenital Adrenal Hyperplasia: An Analysis of Data from the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) Cohort StudyYoonha Lee, Minsun Kim, Yun Jeong Lee, et al.Medicine|August 16, 2021
Efficacy and safety of the recombinant human growth hormone in short children born small for gestational age: A randomized, multicentre, comparative phase III trialSu Jin Kim, Min-Sun Kim, Sung Yoon Cho, et al.Journal of Korean Medical Science|August 26, 2025
Endocrine Disorders in Patients With Inborn Errors of ImmunityEu-Seon Noh, Doo Ri Kim, Minji Im, et al.Korean Journal of Pediatrics|April 5, 2012
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patientsOk Jeong Lee, Su-Jin Kim, Young Bae Sohn, et al.Pageof 12