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Newborn screening of inherited metabolic disease in Korea

Lee DH

In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for...
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Short-term follow up of thyroid function after pediatric hematopoietic stem cell transplantation

Lee SJ, Lee JW, Lee DH, Kwon YJ, Park YS, Hwang HS, Kim SY, Park JK, Jang PS, Jung MH, Chung NG, Jeong DC, Cho B, Kim HK, Lee BC

PURPOSE: In this study, we analyzed the short term changes of thyroid function, incidence and risk factors of thyroid dysfunction soon after allogeneic hematopoietic stem cell transplantation (HSCT) in children. METHODS:...
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A case of intestinal tuberculosis complicated by miliary tuberculosis

Chung MK, Choi JH, Yoo JS, Ahn SI, Lee J, Kim BL, Kim JA, Chang JK

Intestinal tuberculosis presents with nonspecific and variable clinical manifestations. It is rarely seen in current clinical practice and the diagnosis may be missed or confused with many other disorders such...
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Predictive value of cobalt chloride solution for hypohidrosis with topiramate

Lee H, Lee SH, Kim SJ

PURPOSE: The aims of this study were to verify the incidence of hypohidrosis and to determine the predictive value of noninvasive indicator test (Neurocheck(TM)) for sweating after administration of topiramate...
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Pyridoxine responsive sideroblastic anemia in a boy with mitral valve prolapse

Sung JS, Kim KH, Han DG, Kim MJ, Cho YK, Chung HY, Baek HJ, Ma JS, Kook H, Hwang TJ

Sideroblastic anemia is a rare, heterogeneous group of disorders characterized by hyperferremia, microcytic hypochromic anemia, and bone marrow erythroid hyperplasia with the presence of numerous ringed sideroblasts. We describe herewith...
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Diagnosis of inherited metabolic disorders based on their diverse clinical features and laboratory tests

Yoo HW

Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than...
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Diagnostic classification and clinical aspects of floppy infants in the neonatal and pediatric intensive care units

Kim ES, Jung KE, Kim SD, Kim EK, Chae JH, Kim HS, Park JD, Kim KJ, Kim BI, Hwang YS, Choi JH

PURPOSE: The purpose of this study is to make a diagnostic classification and discuss a diagnostic strategy of floppy infants by investigating clinical, neurological, electrophysiological, and genetic analysis of infants...
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Modified Tei index in patients with Kawasaki disease by tissue doppler imaging

Kim HJ, Cha JH, Hong YM

PURPOSE: A quantitative and easily measured Doppler index of combined systolic and diastolic ventricular myocardial performance (Tei index) was recently proposed as a potentially useful predictor of global myocardial performance....
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Methacholine and adenosine 5'-monophosphate challenge tests in children with atopic asthma and with nonatopic asthma, and their relationships to blood eosinophil markers.

Lee SH, Kim DK, Choi SH, Koh YY

PURPOSE: Though atopic and nonatopic asthma have different clinical manifestations, bronchial hyperresponsiveness (BHR) and airway inflammations are common characteristics of them. We investigated BHR to both methacholine and adenosine 5'-monophosphate...
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The iron status and the relationship between iron deficiency and body mass index in middle school girls

Han HY, Chang JH, Shim HS, Hong YJ, Son BK, Kim HC, Kim SK

PURPOSE: Obesity and iron deficiency are common nutritional problems. Obese children are known to have iron deficiencies, but one presented opposite opinion in Korea. This study investigated the prevalence of...
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Diagnostic value of various screening tests in neonatal sepsis

Je HG, Jeoung YM, Jeong SJ

PURPOSE: To evaluate various sepsis screening tests, individually and in combination, to formulate a guideline for the diagnosis of neonatal sepsis. METHODS: The study was a retrospective cohort study. It took...
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Usefulness of modified ambu(R) in patients who need artificial ventilation

Ha KS, Moon IH, Lee HS, Shin DH, Eun SH, Eun BL, Hong YS, Lee JW

PURPOSE: The comatose mentality can be catastrophic, especially if the condition is severe or the duration is prolonged. Therefore, delayed diagnosis can result in a poor outcome or death....
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Treatment and management of patients with inherited metabolic diseases

Lee JS

Inherited metabolic disease is rare disorders that show symptoms mainly in pediatric age and early treatment is important for preventing complications of the disease. Recent development in molecular and biochemical...
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Cause of enteroviral infection in children in chungnam area summer, 2005

Jeon SY, Choi SJ, Kim YB, Nam HS, Park KS, Baek KA, Park JS

PURPOSE: Enterovirus infection is a type of viral infection that occurs relatively frequently in children during summer. It has clinical symptoms of non-specific fever, aseptic encephalomeningitis, gastrointestinal diseases, skin rash...
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