AffiliationDepartment of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Education Research Building, Beaumont Road, Dublin, Ireland. firstname.lastname@example.org
alpha 1-Antitrypsin Deficiency
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CitationAlpha-1 antitrypsin deficiency. 2010, 104 (6):763-72 Respir Med
AbstractTo review the topic of alpha-1 antitrypsin (AAT) deficiency.
Narrative literature review.
Much work has been carried out on this condition with many questions being answered but still further questions remain.
AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly. The clinical manifestations, prevalence, genetics, molecular pathophysiology, screening and treatment recommendations are summarised in this review.
- Reply to: Kelly et al. Alpha-1-antitrypsin deficiency.
- Authors: Stockley RA
- Issue date: 2010 Dec
- Alpha-1-antitrypsin deficiency.
- Authors: Bals R
- Issue date: 2010 Oct
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- Issue date: 2006 May 25
- Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program.
- Authors: Bals R, Koczulla R, Kotke V, Andress J, Blackert K, Vogelmeier C
- Issue date: 2007 Aug
- Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.
- Authors: Ferrarotti I, Baccheschi J, Zorzetto M, Tinelli C, Corda L, Balbi B, Campo I, Pozzi E, Faa G, Coni P, Massi G, Stella G, Luisetti M
- Issue date: 2005 Mar