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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Michael Campos1, Jorge Lascano2
1Division of Pulmonary, Sleep and Critical Care Medicine, Miller School of Medicine, University of Miami, RMSB Room 7043 A (R-47), 1600 NW 10th Ave., Miami, FL, 33136, USA. mcampos1@med.miami.edu.
Alpha-1 antitrypsin deficiency (AATD) patients with lung disease receive augmentation therapy. This therapy, involving intravenous infusions of alpha-1 proteinase inhibitor, shows evidence of slowing lung function decline and emphysema progression.
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