Hdl Handle:
http://hdl.handle.net/10147/127129
Title:
Alpha-1 antitrypsin deficiency.
Authors:
Kelly, Emer; Greene, Catherine M; Carroll, Tomas P; McElvaney, Noel G; O'Neill, Shane J
Affiliation:
Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Education Research Building, Beaumont Road, Dublin, Ireland. emerkelly@rcsi.ie
Citation:
Alpha-1 antitrypsin deficiency. 2010, 104 (6):763-72 Respir Med
Journal:
Respiratory medicine
Issue Date:
Jun-2010
URI:
http://hdl.handle.net/10147/127129
DOI:
10.1016/j.rmed.2010.01.016
PubMed ID:
20303723
Abstract:
To 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.
Item Type:
Article
Language:
en
MeSH:
Genetic Testing; Genotype; Humans; Lung Diseases; Phenotype; Prevalence; Prognosis; Risk Factors; alpha 1-Antitrypsin Deficiency
ISSN:
1532-3064

Full metadata record

DC FieldValue Language
dc.contributor.authorKelly, Emeren
dc.contributor.authorGreene, Catherine Men
dc.contributor.authorCarroll, Tomas Pen
dc.contributor.authorMcElvaney, Noel Gen
dc.contributor.authorO'Neill, Shane Jen
dc.date.accessioned2011-04-05T10:07:25Z-
dc.date.available2011-04-05T10:07:25Z-
dc.date.issued2010-06-
dc.identifier.citationAlpha-1 antitrypsin deficiency. 2010, 104 (6):763-72 Respir Meden
dc.identifier.issn1532-3064-
dc.identifier.pmid20303723-
dc.identifier.doi10.1016/j.rmed.2010.01.016-
dc.identifier.urihttp://hdl.handle.net/10147/127129-
dc.description.abstractTo review the topic of alpha-1 antitrypsin (AAT) deficiency.-
dc.description.abstractNarrative literature review.-
dc.description.abstractMuch work has been carried out on this condition with many questions being answered but still further questions remain.-
dc.description.abstractAAT 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.-
dc.language.isoenen
dc.subject.meshGenetic Testing-
dc.subject.meshGenotype-
dc.subject.meshHumans-
dc.subject.meshLung Diseases-
dc.subject.meshPhenotype-
dc.subject.meshPrevalence-
dc.subject.meshPrognosis-
dc.subject.meshRisk Factors-
dc.subject.meshalpha 1-Antitrypsin Deficiency-
dc.titleAlpha-1 antitrypsin deficiency.en
dc.typeArticleen
dc.contributor.departmentDepartment of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Education Research Building, Beaumont Road, Dublin, Ireland. emerkelly@rcsi.ieen
dc.identifier.journalRespiratory medicineen
dc.description.provinceLeinster-

Related articles on PubMed

All Items in Lenus, The Irish Health Repository are protected by copyright, with all rights reserved, unless otherwise indicated.