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Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center

Alpha 1 Antitrypsin Deficiency (AATD) is a rare condition primarily associated with lung complications and liver disease. As disease symptoms are similar to those in other respiratory conditions, patients generally experience long delays before receiving an accurate diagnosis and treatment. AATD res...

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Detalles Bibliográficos
Autor principal: Kueppers, Friedrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7848626/
https://www.ncbi.nlm.nih.gov/pubmed/33552892
http://dx.doi.org/10.1016/j.rmcr.2021.101345