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Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015

BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is an autosomal codominant inherited disease that is significantly underdiagnosed. We have previously shown that the combination of an awareness campaign with the offer of free diagnostic testing results in the detection of a relevant number of sever...

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Bibliografiset tiedot
Julkaisussa:Orphanet J Rare Dis
Päätekijät: Greulich, Timm, Nell, Christoph, Herr, Christian, Vogelmeier, Claus, Kotke, Viktor, Wiedmann, Stefan, Wencker, Marion, Bals, Robert, Koczulla, Andreas Rembert
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2016
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4901499/
https://ncbi.nlm.nih.gov/pubmed/27282198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0453-8
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