Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Sun-Ju Han"'
1
Akademický článek
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 center
Autor: Min-Sun Kim, Ari Song, Minji Im, June Huh, I-Seok Kang, Jinyoung Song, Aram Yang, Jinsup Kim, Eun-Kyung Kwon, Eu-Jin Choi, Sun-Ju Han, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
Publikováno v: Korean Journal of Pediatrics, Vol 62, Iss 6, Pp 224-234 (2019)
Purpose Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement t
Externí odkaz: https://doaj.org/article/a6ee811f510b44bd876f5ad0720c354b
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3
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 transplantation
Autor: Eun Kyung Kwon, Dong-Kyu Jin, Sun-Tae Ji, Sung Yoon Cho, Se Jung Oh, Ah-Ra Ko, Sun Ju Han, Jeehun Lee, Kyung-Hoon Paik, Yong Jae Park, Dong Hwan Lee, Sung Won Park, Young Bae Sohn, S.T. Kim
Publikováno v: American Journal of Medical Genetics Part A. :1158-1163
Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome, OMIM #253200) is a rare disorder involving multiple organs and manifested particularly by severe skeletal abnormalities. Bone marrow transplantation (BMT) improves cardiopulmonary functi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69cfef2d6715751ba0767ba0a0fda375
https://doi.org/10.1002/ajmg.a.35263
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4
Suppression of Acylated Ghrelin during Oral Glucose Tolerance Test Is Correlated with Whole-Body Insulin Sensitivity in Children with Prader-Willi Syndrome
Autor: Won Hah Park, Yon Ho Choe, Woo Yun Shon, Kyung Hoon Paik, Dong-Kyu Jin, An Hee Kim, Yoo Joung Oh, Seonwoo Kim, Sun Ju Han, Eun Kyung Kwon, Su Hyun Chu
Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 91:1876-1881
Decreased fasting ghrelin levels and decreased ghrelin suppression in overweight children have been reported to be associated with insulin resistance. However, Prader-Willi syndrome (PWS) is associated with increased total ghrelin levels and relative
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b789cafdfd1e7993ebfbe55e48be958
https://doi.org/10.1210/jc.2005-2168
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5
Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
Autor: Jooyoun Jung, Young Bae Sohn, Mi Sun Chang, Younghee Kwun, Su Jin Kim, Rimm Huh, Sung Yoon Cho, Se Hyun Maeng, Dong-Kyu Jin, Jieun Lee, Sun Ju Han, Sung Won Park, Eun-Kyung Kwon
Publikováno v: Journal of Korean Medical Science
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7dcddd0052e7c1aa3c272087f9d27b
https://doi.org/10.3346/jkms.2014.29.2.254
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6
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
Autor: Sun Ju Han, Dong-Kyu Jin, Su Jin Kim, Su-Jin Lee, Chihwa Kim, Ah-Ra Ko, Yeon-Joo Yook, Young Bae Sohn, Soo-Youn Lee, Sung Won Park, Ok Jeong Lee, Hyung-Doo Park, Sung Yoon Cho, S.T. Kim, Eun-Kyung Kwon
Publikováno v: Korean Journal of Pediatrics, Vol 55, Iss 3, Pp 88-92 (2012)
Korean Journal of Pediatrics
PURPOSE Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92738717e4be1692db9e18ba2709bdc3
https://doi.org/10.3345/kjp.2012.55.3.88
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7
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
Autor: Sung Won Park, Eun-Kyung Kwon, Sung Yoon Cho, Young Bae Sohn, Su Jin Kim, Dong-Kyu Jin, Sun Ju Han, Ah-Ra Ko
Publikováno v: Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulates in the lysosomes of many or
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19a788c5a9805793616e9c07ada5c2e
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8
Akademický článek
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
Autor: Ok Jeong Lee, Su-Jin Kim, Young Bae Sohn, Hyung-Doo Park, Soo-Youn Lee, Chi-Hwa Kim, Ah-Ra Ko, Yeon-Joo Yook, Su-Jin Lee, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin
Publikováno v: Korean Journal of Pediatrics, Vol 55, Iss 3, Pp 88-92 (2012)
PurposeMucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, wh
Externí odkaz: https://doaj.org/article/e1103987f64b4280aecf870c600b0834
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