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