Zobrazeno 1 - 10
of 268
pro vyhledávání: '"In Bae Sohn"'
Autor:
Jiwon Baek, Kyoung-A. Kim, Hokon Kim, Ocksim Kim, Minjeong Ko, Soo Hyun Kim, In Bae Sohn, Bo Kyung Shin, Woo Taek Jeon, Sang Hui Chu
Publikováno v:
European Journal of Psychotraumatology, Vol 13, Iss 2 (2022)
Background: The International Trauma Questionnaire (ITQ) is a self-report assessment focused on the core features of Post-Traumatic Stress Disorder (PTSD) and complex Post-Traumatic Stress Disorder (CPTSD). It is consistent with the organizing princi
Externí odkaz:
https://doaj.org/article/353eb2bbb330490e8caeb253d656e284
Autor:
Young Bae Sohn, Raymond Wang, Jane Ashworth, Pierre Broqua, Mireille Tallandier, Jean-Louis Abitbol, Erin Jozwiak, Laura Pollard, Timothy C. Wood, Tariq Aslam, Paul R. Harmatz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101041- (2024)
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disorder characterized by deficient activity of arylsulfatase B enzyme (ASB) resulting in cellular accumulation of dermatan sulfate (DS) and chondroitin sulfate (CS) t
Externí odkaz:
https://doaj.org/article/efb44fff9b354619a473658aafb0ccd6
Autor:
Young Bae Sohn
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 3, Pp 169-175 (2022)
Based on the genetic contribution, childhood obesity can be classified into 3 groups: common polygenic obesity, syndromic obesity, and monogenic obesity. More genetic causes of obesity are being identified along with the advances in the genetic testi
Externí odkaz:
https://doaj.org/article/10214c9d5dea4ac0ba0ac2d65dd2ff4a
Autor:
Sua Jo, Hyeyeon Moon, Kyungil Park, Chang-Bae Sohn, Jeonghwan Kim, Yong-Seop Kwon, Su Hong Kim
Publikováno v:
Trials, Vol 23, Iss 1, Pp 1-9 (2022)
Abstract Background Dilated cardiomyopathy (DCMP) is characterized by ventricular chamber enlargement and systolic dysfunction which may cause heart failure. Patients with DCMP have overactivation of the renin-angiotensin-aldosterone systems, which c
Externí odkaz:
https://doaj.org/article/949dfaa3b2d34fce964cfd3c14e05920
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss Suppl 1, Pp S23-S24 (2022)
Externí odkaz:
https://doaj.org/article/d7f05ac153fe41439f1c6472152ad72c
Publikováno v:
Neonatal Medicine, Vol 28, Iss 2, Pp 89-93 (2021)
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, prim
Externí odkaz:
https://doaj.org/article/dd75558f1487417387cee18636dba0ac
Autor:
Nathan Grant, Young Bae Sohn, N. Matthew Ellinwood, Ericka Okenfuss, Bryce A. Mendelsohn, Leslie E. Lynch, Elizabeth A. Braunlin, Paul R. Harmatz, Julie B. Eisengart
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100845- (2022)
Hunter syndrome, or mucopolysaccharidosis (MPS) II, is a rare lysosomal disorder characterized by progressive, multi-system disease. As most symptoms cannot be reversed once established, early detection and treatment prior to the onset of clinical sy
Externí odkaz:
https://doaj.org/article/78f5645476fb4f0580327795b9155c45
Autor:
Yoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, Young Bae Sohn, Jung Min Ko, Beom Hee Lee, Chong Kun Cheon, Han Hyuk Lim, Sun-Hee Heo, Han-Wook Yoo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Gaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by GBA. Haplotype analyses previously demonstrated founder effects for particular GBA mutations in Ashkenazi Jewish and French-Canadian populations.
Externí odkaz:
https://doaj.org/article/af2d27d6cb5445a3afd76135061408fc
Publikováno v:
Endocrinology & Metabolism. Oct2022, Vol. 37 Issue 5, p732-743. 12p.
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-15 (2019)
Abstract Background Prader-Willi syndrome (PWS) is a rare complex genetic disorder and is characterized by short stature, muscular hypotonia, abnormal body composition, psychomotor retardation, and hyperphagia. Recombinant human growth hormone (rhGH)
Externí odkaz:
https://doaj.org/article/c05b42a758cf4c47a49647da6dd49c54