• 대한유전성대사질환학회지
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• 제12권2호
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• pp.75-80
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• 2012

• 대한유전성대사질환학회지
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• 제12권2호
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• pp.81-84
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• 2012

• 대한유전성대사질환학회지
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• 제10권1호
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• pp.37-39
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• 2010

• 대한유전성대사질환학회지
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• 제10권1호
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• pp.47-50
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• 2010

• 대한유전성대사질환학회지
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• 제3권1호
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• pp.1-3
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• 2003

저자들은 예후가 좋지 않은 것으로 알려진 $mut^0$ type 메칠말로닌산혈증 환아를 지속적 외래 복막투석을 통해 신경학적 결손 없이 7세까지 정상 성장 발달을 이루도록 한 증례를 경험하였기에 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제13권2호
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• pp.81-88
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• 2013

• 대한유전성대사질환학회지
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• 제14권2호
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• pp.182-185
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• 2014

GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.

• Nutrition Research and Practice
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• 제6권6호
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• pp.513-519
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• 2012

Aged garlic extract (AGE) is known to have a protective effect against immune system, endothelial function, oxidative stress and inflammation. We examined the effects of exercise with and without aged garlic extract administration on body weight, lipid profiles, inflammatory cytokines, and oxidative stress marker in high-fat diet (HFD)-induced obese rats. Forty-five Sprague-Dawley rats were fed either a HFD (HFD, n = 40) or a normal diet (ND, n = 5) for 6 weeks and thereafter randomized into ND (n = 5), HFD (n = 10), HFD with AGE (n = 10), HFD with Exercise (n = 10), or HFD with Exercise+AGE (n = 10) for 4 weeks. AGE groups were administered at a dose of 2.86 g/kg body weight, orally. Exercise consisted of running 15-60 min 5 days/week with gradually increasing intensity. AGE (P<0.01), Exercise, and Exercise+AGE (P<0.001) attenuated body weight gain and food efficiency ratio compared to HFD. Visceral fat and liver weight gain were attenuated (P<0.05) with all three interventions with a greater effect on visceral fat in the Exercise+AGE than AGE (P<0.001). In reducing visceral fat (P<0.001), epididymal fat (P<0.01) and liver weight (P<0.001), Exercise+AGE was effective, but exercise showed a stronger suppressive effect than AGE. Exercise+AGE showed further additive effects on reducing visceral fat and liver weight (P<0.001). AGE significantly attenuated the increase in total cholesterol and low-density lipoprotein-cholesterol compared with HFD (P<0.05). Exercise+AGE attenuated the increase in triglycerides compared with HFD (P<0.05). Exercise group significantly decrease in C-reactive protein (P<0.001). These results suggest that AGE supplementation and exercise alone have anti-obesity, cholesterol lowering, and anti-inflammatory effects, but the combined intervention is more effective in reducing weight gain and triglycerides levels than either intervention alone.

• 대한중풍순환신경학회지
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• 제13권1호
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• pp.43-51
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• 2012

Object : The purpose of this study was to evaluate the relationship between pattern identification (PI) and stroke risk factors, such as hypertension, diabetes mellitus, dyslipidemia, stroke history, obesity, abdominal obesity and metabolic syndrome. Methods : 46 patients with acute ischemic stroke were recruited from May 2012 to November, 2012. We analyzed the data of 32 patients, and pattern identification was identified by resident and specialist of Korean medicine. We analized patient's PI and risk factor by Fisher's exact test. Results : We found that Dampness-phlegm group was more related with patient's metabolic syndrome than non Dampness-Phlegm group. And Yin deficiency group had less relationship with patient's metabolic syndrome, obesity, abdominal obesity and dyslipidemia than non Yin deficiency group. Conclusions : According to the analysis, these results provide evidence for relationship between the Dampness-phlegm group, Yin deficiency and metabolic syndrome.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.42-47
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• 2014

Gaucher disease is a multisystemic disorder arising from a deficient activity of the lysosomal enzyme glucocerebrosidase, which leads to accumulation of glycosylceraide and other glycolipids in the regiculoendothelial system. The characteristics of Gaucher disease are anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. Enzyme replacement therapy (ERT) has been proven to prevent progressive manifestations of Gaucher disease and effective in improving anemia, thrombocytopenia, bone markers and biomarkers. However, some patient needs still remain unmet because of the inaccessibility of certain sites including brain, bone and various organs. ERT could not Improve the irreversible lesion such as liver fibrosis, hepatopulmonary syndrome, and necrosis or infarction of bone and other organs. Adult patients with Gaucher disease should be screened for longterm complication such as bone disease, pulmonary hypertension, gallstone, and cancer, especially in patients with splenectomy. Parkinsonism and polyneuropathy was also reported among patients with type 1 Gaucher disease, but ERT does not improve neurological function. We need to review the benefits and unmet needs of ERT in Gaucher disease.