Hereditary fructose intolerance and á1 antitrypsin deficiency
نویسندگان
چکیده
A patient with coexisting hereditary fructose intolerance (HFI) and á1 antitrypsin deficiency (á1ATD) is described. Protease inhibitor typing was not conclusive, presumably because of impaired N-glycosylation secondary to HFI. The case underlines the diagnostic role of molecular genetic techniques in inborn errors of metabolism. (Arch Dis Child 2000;83:72–73)
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تاریخ انتشار 2000