Document Detail

Alpha-1 antitrypsin deficiency.
MedLine Citation:
PMID:  20303723     Owner:  NLM     Status:  MEDLINE    
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.
Emer Kelly; Catherine M Greene; Tomas P Carroll; Noel G McElvaney; Shane J O'Neill
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Publication Detail:
Type:  Journal Article; Review     Date:  2010-03-20
Journal Detail:
Title:  Respiratory medicine     Volume:  104     ISSN:  1532-3064     ISO Abbreviation:  Respir Med     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-24     Completed Date:  2010-11-05     Revised Date:  2010-11-23    
Medline Journal Info:
Nlm Unique ID:  8908438     Medline TA:  Respir Med     Country:  England    
Other Details:
Languages:  eng     Pagination:  763-72     Citation Subset:  IM    
Copyright Information:
Copyright 2010 Elsevier Ltd. All rights reserved.
Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Education Research Building, Beaumont Road, Dublin, Ireland.
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MeSH Terms
Genetic Testing
Lung Diseases / diagnosis*,  genetics
Risk Factors
alpha 1-Antitrypsin Deficiency / complications,  diagnosis*,  genetics
Comment In:
Respir Med. 2010 Dec;104(12):1956-7   [PMID:  20926273 ]

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