- Case Report
- A Case of Dominantly Inherited β Thalassemia
Due to Hb Dieppe
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You Kyoung Choi, Hong Jin Lee, Won Il Park, Kyung Ja Lee, Sung Ha Kang, Ji Yeon Kim, Sung Sup Park
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Clin Exp Pediatr. 2002;45(5):659-663. Published online May 15, 2002
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β thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of β thalassemia have been identified in individuals who have inherited a single copy of an abnormal β globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) A2 and Hb F levels. In particular, there... |
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- Original Article
- Organic Acidemias in Korea
- Three Years Experience of Organic Acid Analysis -
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You Kyoung Choi, Eung Seok Kim, Eun Joo Bae, Won Il Park, Kyung Ja Lee, Hong Jin Lee
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Clin Exp Pediatr. 2002;45(11):1346-1358. Published online November 15, 2002
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Purpose : We have done this retrospective study to know the relative incidences and clinical manifestations of organic acidopathies in Korea.
Methods : The results of quantitative organic acid analysis of 1,125 samples of 712 patients, referred from Jul. 1997 to Jun. 2000, were analyzed retrospectively according to four age groups (-2 mon, 3 mon-2 year, 3 years-12 years, over... |
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- Quantification of Age-related Reference Values for Urinary Organic Acids in the Healthy Korean Population
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Yong Jae Choi, In Cheol Kim, You Kyoung Choi, Hong Jin Lee, Bong Sung Kim, Won Il Park, Kyoung Ja Lee, T. Giudic, M. Blaskovics
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Clin Exp Pediatr. 2001;44(12):1413-1423. Published online December 15, 2001
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Purpose : For the accurate diagnosis of organic acidopathies, quantification of urinary organic acid
should be done and we should know the normal ranges of each organic acid excreted in the
urine. The amount of organic acids excreted in the urine shows wide variability according to ethnic
group, diet and age. We have quantified 82 organic acids to make a Korean reference value.
Methods... |
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