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Review Article

Diagnosis of inherited metabolic disorders based on their diverse clinical features and laboratory tests

Han-Wook Yoo

Clin Exp Pediatr. 2006;49(11):1140-1151. Published online November 15, 2006

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 500 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that require immediate specific intervention or they present with insidious diverse...

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