Zobrazeno 1 - 10
of 455
pro vyhledávání: '"Dong- Kyu Jin"'
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 7, Iss 7, Pp 1479-1481 (2013)
The mutations in the Cartilage Oligomeric Matrix Protein (COMP) gene are associated two common and allelic bony dysplasias: Psuedoachondroplasia (PSACH) and Multiple epiphyseal dysplasias-1 (MED-1). The characteristic radiological features of bot
Externí odkaz:
https://doaj.org/article/81a46a13d6b847c3a304239db1b3757e
Autor:
Minji Im, Ari Song, Jiyeon Kim, Min-Sun Kim, Sae-Mi Lee, Mi Jin Kim, Sung Yoon Cho, Dong-Kyu Jin
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 3, Pp 229-235 (2022)
Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes b
Externí odkaz:
https://doaj.org/article/a7cb551c04b24bd08b38f19c71ec32b5
Autor:
Hyojung Park, Min-Sun Kim, Jiyeon Kim, Sae-Mi Lee, Sung Yoon Cho, Eun-Gyong Yoo, Dong-Kyu Jin
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 1, Pp 73-77 (2022)
Diabetic ketoacidosis (DKA) is a medically fatal condition in poorly controlled hyperglycemia or newly diagnosed diabetes mellitus. Severe hypertriglyceridemia (HTG) is an uncommon complication of DKA and can be associated with acute pancreatitis (AP
Externí odkaz:
https://doaj.org/article/832da1d3853f435bb919451faa88e5ec
Autor:
Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 1, Pp 67-72 (2022)
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male
Externí odkaz:
https://doaj.org/article/2c7a73e1f338406a9c811f673589a668
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 2, Pp 148-152 (2021)
Prader-Willi syndrome (PWS) is characterized by hypotonia, distinctive facial features, hyperphagia, obesity, short stature, hypogonadism, intellectual disability, and behavior problems. Uncontrolled hyperphagia can lead to dangerous food-seeking beh
Externí odkaz:
https://doaj.org/article/d5ac3092a20245309922f9358637b3ec
Autor:
Kyoung Im Cho, Dong Woon Jeon, Hyo Seung Ahn, Dong Kyu Jin, Hyun Sang Lee, Jong-Young Lee, Hong-Seok Lim, Athanasios J. Manolis, Seung-Woon Rha, Sang Won Park
Publikováno v:
Clinical Hypertension, Vol 27, Iss 1, Pp 1-9 (2021)
Abstract Background BENEFIT-KOREA (BEnefits after 24 weeks of NEbivolol administration For essential hypertensIon patients wiTh various comorbidities and treatment environments in Korea) study, an observational study in South Korea, demonstrated the
Externí odkaz:
https://doaj.org/article/8d9805bbf33843a9af81a9bc0ad84682
Autor:
Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 1, Pp 46-51 (2020)
Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute regulatory (STAR) gene; the dise
Externí odkaz:
https://doaj.org/article/8ca4728abf0f48f2a0fb93e9820058cc
Autor:
Sung Yoon Cho, Danbee Kang, Minji Im, Aram Yang, Min-Sun Kim, Jiyeon Kim, Eu-Seon Noh, Eun Kyung Kwon, Eujin Choi, Sunju Han, Young Ah Park, Min Jung Kwak, Youngha Kim, Juhee Cho, Dong-Kyu Jin
Publikováno v:
Epidemiology and Health, Vol 44 (2022)
OBJECTIVES Hyperphagia is a highly stressful, life-threatening feature of Prader-Willi syndrome (PWS). It is important to assess this complex behavior accurately over time. This study aimed to develop and validate the Pediatric-Youth Hyperphagia Asse
Externí odkaz:
https://doaj.org/article/8bd87527909246ddacad0da87b41e91f
Autor:
Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-9 (2019)
Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoc
Externí odkaz:
https://doaj.org/article/0143423662db444797de4673efb60a6e
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
ObjectiveThis study aimed to determine the most appropriate age for height control treatment in patients with Marfan syndrome (MFS).Materials and MethodsThis retrospective study included patients with MFS who underwent height control treatment with e
Externí odkaz:
https://doaj.org/article/c8f7a148c64f4102b2791ef85a8f8579