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TITLE: Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis  Full Text
AUTHORS: Bacalhau, Mafalda; Camargo, Mariana; Magalhaes Ghiotto, Grace A. V.; Drumond, Sybelle; Castelletti, Carlos Henrique M.; Lopes Pacheco, Miqueias;
PUBLISHED: 2023, SOURCE: PHARMACEUTICALS, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus WOS
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TITLE: Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant  Full Text
AUTHORS: Mafalda Bacalhau; Marta Simões; Mariana C Rocha; Steven A Hardy; Amy E Vincent; João Durães; Maria C Macário; Maria João Santos; Olinda Rebelo; Carla Lopes; João Pratas; Cândida Mendes; Mónica Zuzarte; Cristina C Rego; Henrique Girão ; Lee Jun C Wong; Robert W Taylor; Manuela Grazina;
PUBLISHED: 2018, SOURCE: Neuromuscular Disorders, VOLUME: 28, ISSUE: 4
INDEXED IN: Scopus CrossRef: 7