Discovery of alpha 1-antitrypsin deficiency.

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

Lung

journal_title

Lung

authors

Eriksson S

doi

10.1007/BF02718174

subject

Has Abstract

pub_date

1990-01-01 00:00:00

pages

523-9

eissn

0341-2040

issn

1432-1750

journal_volume

168 Suppl

pub_type

杂志文章,评审

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