Type

Other / n/a

Authors

Shane J O'Neill
Noel G McElvaney
Tomás P Carroll
Catherine M Greene
Emer Kelly

Subjects

Medicine & Nursing

Topics
humans risk factors lung diseases genetic testing prevalence phenotype prognosis genotype medicine and health sciences alpha 1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency. (2010)

Abstract OBJECTIVE: To review the topic of alpha-1 antitrypsin (AAT) deficiency.METHOD: Narrative literature review.RESULTS: Much work has been carried out on this condition with many questions being answered but still further questions remain.DISCUSSION AND CONCLUSIONS: 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.
Collections Ireland -> Royal College of Surgeons in Ireland -> Medicine Articles
Ireland -> Royal College of Surgeons in Ireland -> Department of Medicine

Full list of authors on original publication

Shane J O'Neill, Noel G McElvaney, Tomás P Carroll, Catherine M Greene, Emer Kelly

Experts in our system

1
Shane J O'Neill
Royal College of Surgeons in Ireland
Total Publications: 84
 
2
Noel G McElvaney
Royal College of Surgeons in Ireland
Total Publications: 194
 
3
Tomás P Carroll
Royal College of Surgeons in Ireland
Total Publications: 26
 
4
Catherine M Greene
Royal College of Surgeons in Ireland
Total Publications: 150