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RISS 인기검색어
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- 저자 : 이종윤(Lee, Jong Yun) (검색결과 245 건)
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한국인 소아청소년기 발달지연의 원인질환으로서의 유기산대사이상질환
이종윤,이예승,최중완,배은주,박원일,오필수,이홍진,Lee, Jong Yoon,Lee, Ye Seung,Choi, Joong Wan,Bae, Eun Joo,Park, Won Il,Oh, Phil Soo,Lee, Hong Jin 대한유전성대사질환학회 2012 대한유전성대사질환학회지 Vol.12 No.2
Purpose: Developmental delay is caused by very diverse etiologic diseases. Most chronic disorders has some influence on development. Chronic or acute disorders of CNS are main etiologic diseases of developmental delay. Up to now, over 60 diseases are included in organic acidopathies and most of them causes acute or chronic recurrent CNS damage and developmental delay. We have done this study to find out the importance of organic acidopathies causing developmental delay in Korean childhood and adolescent patients. Method: Retrograde analysis for 738 patients with developmental delay whose clinical informations are available and have done urine organic acid analysis for 5 years period, between Jan. 1st 2007 to Dec. 31th 2011. Statistical analysis was done with Student's t test using SPSS. Result: Out of 738 patients, 340 patients (46.1%) showed abnormalities on urine organic acid analysis. The most frequent disease was mitochondrial respiratory chain disorders (MRCD) (253, 34.3%), followed by ketolytic defects(39, 5.3%), 3-hydroxyisobutyric aciduria (26, 3.5%), glutaric aciduria type II (8, 1.1%), pyruvate dehydrogenase deficiency (3, 0.4%), 3-methylglutaric aciduria (2, 0.3%), glutaric aciduria type I (2, 0.3%), ethylmalonic aciduria (1, 0.15%), methylmalonic aciduria (1, 0.15%), HMG-CoA lyase deficiency (1, 0.15%), 3-methylcrotonylglycinuria (1, 0.15%), fatty acid oxidation disorders(1, 0.15%) and FAOD (1, 0.15%). Conclusion: Mitochondrial disorders are most frequent etiologic disease on all age group, followed by ketolytic defects and various organic acidopathies. The number and diversities of organic acidopathies emphasize meticulous evaluation of basic routine laboratory examinations and organic acid analysis with initial sample on every developmental patient.
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Isolated Glycerol Kinase Deficiency
이종윤,김희권,배은주,오필수,박원일,이홍진,Lee, Jong Yoon,Kim, Hui Kwon,Bae, Eun Ju,Oh, Phil Soo,Park, Won Il,Lee, Hong Jin The Korean Society of Inherited Metabolic Disease 2012 대한유전성대사질환학회지 Vol.12 No.1
A 3-year-old boy was transferred to emergency room (ER) with lethargy and abdominal pain. Physical examination revealed drowsy mental status but neurologically intact. Basic evaluation in ER shows hypoglycemia (43 mg/dL), hyperglycerolemia, ketonemia and ketonuria. Initial urine organic acid was performed and the result showed severe hyperglyceroluria. Under suspicion of isolated GKD, GKD gene was obtained from his DNA from white blood cell in peripheral blood and sequencing was performed. Isolated glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism that is either symptomatic or asymptomatic. GKD is due to deletions of, or mutations within, the GK gene, and there is no genotype-phenotype correlation. Gene study that we performed showed normal at a well-known mutation site, but found 4-base insertion at 79 base pair away from the beginning of exon 11.
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이종윤 ( Jong Yun Lee ),이한주 ( Han Joo Lee ),이용진 ( Yong Jin Lee ) 한국안전학회(구 한국산업안전학회) 2012 한국안전학회지 Vol.27 No.6
This study is the things to experiment and evaluate the performance of self-healing water-proofing on the concrete to be using the crystal growth composite waterproofing admixture. The cylinder to be making on the concrete by Ø150×300 mm for evaluating the performance of self-healing water-proofing was aging 90 days and cut on a 50 mm. So, it prompted the crack and applied. After it measured the quantity of water to be flow the water throughout the crack part of the cylinder, it applied the basic formular of Darcy`s law and calculated the coefficient of water permeability. So, it verified the performance of self-healing water-proofing on the basis of the changing shape of the water permeability. This experiment is the thing to be applied the general evaluation of the structure to demand the real watertightness on doing for the evaluating of performance of the quantity of water leak and self-healing water-proofing about the various penetration crack.
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