| Literature DB >> 10869005 |
G Hillebrand1, R Schneppenheim, H D Oldigs, R Santer.
Abstract
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.Entities:
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Year: 2000 PMID： 10869005 PMCID： PMC1718408 DOI： 10.1136/adc.83.1.72
Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791