Abstract:
:The author reviews the early history of alpha 1-antitrypsin (AAT) deficiency; the biochemical characterization of this inborn error of metabolism, its pattern of inheritance, frequency and predisposition to early, panacinar emphysema. The importance of the destructive element in emphysema and the gradual focusing on neutrophil elastase as a key enzyme in the pathogenesis of emphysema in alpha 1-antitrypsin deficiency is emphasized. The deficiency state as a prototype of an endoplasmic reticulum storage disease is discussed.
journal_name
Lungjournal_title
Lungauthors
Eriksson Sdoi
10.1007/BF02718174subject
Has Abstractpub_date
1990-01-01 00:00:00pages
523-9eissn
0341-2040issn
1432-1750journal_volume
168 Supplpub_type
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