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7 p, 339.5 KB Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency : a new approach / Belmonte, Irene (Vall d'Hebron Institut de Recerca (VHIR)) ; Barrecheguren Fernández, Miriam (Hospital Universitari Vall d'Hebron) ; López-Martínez, Rosa M (Hospital Universitari Vall d'Hebron) ; Esquinas, Cristina (Hospital Universitari Vall d'Hebron) ; Rodríguez, Esther (CIBER of Respiratory Diseases) ; Miravitlles, Marc (CIBER of Respiratory Diseases) ; Rodríguez-Frías, Francisco (CIBER of Liver and Digestive Diseases. Instituto Nacional de Salud Carlos III) ; Universitat Autònoma de Barcelona
Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. [...]
2016 - 10.2147/COPD.S115940
International Journal of Chronic Obstructive Pulmonary Disease, Vol. 11, Num. 1 (October 2016) , p. 2535-2541  

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