• 대한유전성대사질환학회지
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• 제13권2호
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• pp.75-80
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• 2013

Specific genetic conditions may lead to sudden unexpected deaths in infancy, such as inborn errors of fatty acid oxidation and genetic disorders of cardiac ion channels. The disease may present dramatically with severe hypoketotic hypoglycemia, Reye syndrome or sudden death, typically with a peak of frequency around 3-6 month, whilst neonatal sudden death is quite rare. When undetected, approximately 20-25% of infants will die or suffer permanent neurologic impairment as a consequence of the first acute metabolic decompensation. Meanwhile, the advent of newborn screening for metabolic diseases has revealed populations of patients with disorders of fatty acid oxidation (FAO), the most frequent of which is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Without this screening, affected individuals would likely succumb to sudden infant death syndrome (SIDS). Here we describe an overview of sudden infant death syndrome and inherited metabolic disorder.

• 한국수정란이식학회:학술대회논문집
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• 한국수정란이식학회 2006년도 The 6th Intermational Symposium on Developmental Biotechnology
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• pp.60-61
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• 2006

• 대한한방내과학회지
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• 제30권4호
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• pp.761-771
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• 2009

Objectives : The aim of this study was to assess the relationship between metabolic syndrome and erythrocyte deform ability in acute stroke patients. Methods : Among 88 of the recruited patients, 52 were diagnosed as metabolic syndrome. We assessed their general characteristics, risk factors. We compared the assessed variables between metabolic syndrome and control group. We analyzed the relationship between metabolic syndrome and erythrocyte deform ability. We analyzed relationship between cardiovascular risk factors and erythrocyte deformability. Results : The general characteristics waist and hip circumference, waist/hip ratio were higher in metabolic syndrome group. The metabolic syndrome group was also diagnosed with hypertension, DM, and hyperlipidemia more often than the control group. The blood test metabolic syndrome group showed higher triglycerides, total lipids, fasting blood sugar, and 2 hours postprandial plasma glucose level and lower HDL-cholesterol than the control group. There were more patients diagnosed with Dampness-Phlegm in the metabolic syndrome group. There were more patients showing lower erythrocyte deform ability in the metabolic syndrome group. The plasma homocysteine level was negatively correlated with erythrocyte deform ability. Conclusion : The results reconfirmed that the risk factors are more in metabolic syndrome group. The results indicated that metabolic syndrome lead to a lower erythrocyte deform ability in small vessel disease stroke patients. The Plasma homocysteine level was negatively correlated with erythrocyte deform ability.

• 대한유전성대사질환학회지
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• 제11권1호
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• pp.74-83
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• 2011

• 대한유전성대사질환학회지
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• 제2권1호
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• pp.35-45
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• 2002

• 대한유전성대사질환학회지
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• 제3권1호
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• pp.62-62
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• 2003

• 대한유전성대사질환학회지
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• 제1권1호
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• pp.28-29
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• 2001

• 대한유전성대사질환학회지
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• 제2권1호
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• pp.68-71
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• 2002

• 대한한방내과학회지
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• 제39권4호
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• pp.612-623
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• 2018

Objective: The aim of this research was to investigate the current status and limitations of the clinical use of a pulse tonometry device (PTD). Methods: We searched online medical databases, including Oriental Medicine Advanced Searching Integrated System (OASIS), Research Information Sharing Service (RISS), DataBase Periodical Information Academic (DBpia) and PubMed, for clinical studies of metabolic diseases that used PTD. We selected articles on the clinical application of the PTD but excluded duplicate articles, clinical studies without the PTD, and non-clinical studies. In the first screening, 551 articles were selected. Ultimately, we found 10 articles and classified the articles according to the following diseases: hyperlipidemia, diabetes, overweight and obesity, hypertension, and metabolic disease. Results: Of the 10 selected articles, 4 were focused on hypertension. Two articles were focused on overweight or obesity and two articles were focused on the metabolic disease. Conclusions: This study was the first attempt to conduct a systematic review on clinical studies of metabolic disease using the PTD as a primary outcome. We suggest that the standard of pulse wave parameters and operating procedures for the PTD should be further developed. The results of this study are expected to be used as basic information for the planning and progression of clinical studies of metabolic syndrome using PTD.

• 대한유전성대사질환학회지
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• 제3권1호
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• pp.4-14
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• 2003

Maple syrup urine disease or branched chain ketoacidurias caused by a deficiency in activity of the branched-chain ${\alpha}$-keto acid dehydrogenase(BCKD) complex. This metabolic block results in the accumulation of the branched-chain amino acids(BCAAs) leucine, isoleucine and valine, and the corresponding branched chain ${\alpha}$-keto acids (BCKAs). Based on the clinical presentation and biochemical responses to thiamine administration, MSUD patients can be divided into five phenotypes : classic, intermediate, intermittent, thiamine responsive and dihydrolipoyl dehydrogenase(E3)-deficient. Classic MSUD has a neonatal onset of encephalopathy, and is the most severe ad most common form. Variant forms of MSUD generally have the initial symptoms by 2 years of age. The majority of untreated classic patients die within the early months of life from recurrent metabolic crisis and neurologic deterioration. Treatment involves both longterm dietary management and aggressive intervention during acute metabolic decompensation. We report here our experience of longterm diet therapy and treatment of acute metabolic decompensation of a case of classic MSUD.