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Review Article
Treatment and management of patients with inherited metabolic diseases
Jin-Sung Lee
Clin Exp Pediatr. 2006;49(11):1152-1157.   Published online November 15, 2006
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 techniques help clinicians with proper diagnosis of patients, however, many of the disease still remain lack of effective therapeutic strategies. Better understanding on biochemical and molecular basis of pathogenesis of...
Case Report
A Case of Congenital Nonspherocytic Hemolytic Anemia.
Tae Sook Kim, Sang Bae Jeon, Bok Yang Pyun
Clin Exp Pediatr. 1985;28(6):597-603.   Published online June 30, 1985
We observed a case of congenital nonspherocytic hemolytic anemia who was a 24 month old boy with the signs of jaundice 技 pallor. Evidences of the same disease was also found in the patient' s elder brother & father. We diagnosed these cases by history & physical examination, peripheral & B.M. blood smears, osmotic fragility test, autohemolysis test and etc. A...


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