Article
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency.
Archives of disease in childhood - 1 Jul 2000
Hillebrand G, Schneppenheim R, Oldigs H D, Santer R
Abstract excerpt
A patient with coexisting hereditary fructose intolerance (HFI) and alpha(1) antitrypsin deficiency (alpha(1)ATD) 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.
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