Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sook-Za Kim"'
Autor:
Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy, Sook-Za Kim
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders in which pancreatitis
Externí odkaz:
https://doaj.org/article/d6c6f12b9e9948ccbb408ed2d9e61ffd
Autor:
Jin Myoung Seok, Jin-Hong Shin, Jin-Sung Park, Jung-Joon Sung, Sook Za Kim, Dae-Seong Kim, Jung Hwan Lee, Young-Eun Park, Young Chul Choi, Kwang-Kuk Kim, Byoung Joon Kim, Tai-Seung Nam
Publikováno v:
Journal of the Korean Neurological Association. 39:75-81
Background: Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9f5a9bee6ce9b824a7b5fd32a9868a5
https://doi.org/10.17340/jkna.2021.2.3
https://doi.org/10.17340/jkna.2021.2.3
Publikováno v:
Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S45-S48 (2016)
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric scree
Externí odkaz:
https://doaj.org/article/66eccac779064270a72f29c25aa1e655
Autor:
Yong Wook Lee, Mea-young Chang, Han-Wook Yoo, Gu-Hwan Kim, Han Hyuk Lim, Sook Za Kim, Yoo-Mi Kim, Mi Hyeon Gang, Jung Min Ko
Publikováno v:
Journal of Genetic Medicine. 16:85-89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f12e5a274dbec797fc73665a4f2d342
https://doi.org/10.5734/jgm.2019.16.2.85
https://doi.org/10.5734/jgm.2019.16.2.85
Autor:
Yoo-Mi Kim, Wung Joo Song, Han Hyuk Lim, Sook-Za Kim, Jae Young Kim, Harvey L. Levy, Mea Young Chang, Woo Jin Hwang, Hong Ryang Kil
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
BackgroundRepeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders in which pancreatitis can occur.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14a8d252d274227e5a7d127cb099c898
https://doi.org/10.1186/s13023-021-01685-9
https://doi.org/10.1186/s13023-021-01685-9
Publikováno v:
Analytical Letters. 51:793-806
An efficient method for the simultaneous profiling analysis of 44 fatty acids including 24 aliphatic, 12 hydroxyl, and eight methyl-branched fatty acids as tert-butyldimethylsilyl (TBDMS) derivatives was developed by gas chromatography–mass spectro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8b64df5bdafd2c1b33cfa41549af47a
https://doi.org/10.1080/00032719.2017.1363769
https://doi.org/10.1080/00032719.2017.1363769
Autor:
Jung Hwan Lee, Hyung Jun Park, Hye Kyoung Kim, Young Chul Choi, Young Mi Jeon, Jin Hong Shin, Dae Seong Kim, Sook Za Kim
Publikováno v:
Neuromuscular Disorders. 27:550-556
We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::360f710ed4ca2fb434f70f449e4dd062
https://doi.org/10.1016/j.nmd.2017.03.005
https://doi.org/10.1016/j.nmd.2017.03.005
Publikováno v:
Perinatology. 30:147
Objective: To investigate polydactyly in neonates who were admitted to neonatal intensive care unit (NICU) due to urgent medical needs. Methods: Retrospective chart review of polydactyly neonates admitted to NICU of Chungnam National University Hospi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57137cc7c9333bf3ba9de20c75bd7372
https://doi.org/10.14734/pn.2019.30.3.147
https://doi.org/10.14734/pn.2019.30.3.147
Publikováno v:
Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S45-S48 (2016)
Korean Journal of Pediatrics
Korean Journal of Pediatrics
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8fabd7a6c548f78bed0b84c13074d4
http://kjp.or.kr/upload/pdf/kjped-59-S45.pdf
http://kjp.or.kr/upload/pdf/kjped-59-S45.pdf
Publikováno v:
Korean Journal of Pediatrics; 2016, Vol. 59 Issue Suppl1, pS45-S48, 4p