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Št. zadetkov: 3
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease
Priya S. Kishnani, Barry J. Byrne, Kristl G. Claeys, Jordi Diaz-Manera, Mazen M. Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Noemi Hummel, Blaž Koritnik
Izvirni znanstveni članek
Oznake: Pompe disease;patient-reported outcomes;health-related quality of life;SARS-Cov-2;
Background: Late-onset Pompe disease (LOPD), a rare autosomal recessive multisystemic disorder, substantially impacts patients’ day-to-day activities, outcomes, and health-related quality of life (HRQoL). The PROPEL trial compared cipaglucosidase alfa plus miglustat (cipa+mig) with alglucosidase alf ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Whole-body pattern of muscle degeneration and progression in sarcoglycanopathies
Laura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, Penélope Romero-Duque, Elena Pegoraro, Jordi Diaz-Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Lea Leonardis
Izvirni znanstveni članek
Oznake: progresija bolezni;ramensko medenična mišična distrofija;MR mišic;sarkoglikanopatija;vzorec prizadetosti na celotelesnem MR;disease progression;limb girdle muscular dystrophy;muscle MRI;sarcoglycanopathy;whole‐body pattern;
Objective: To characterize whole-body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods: Retrospective, cross-sectional, multicentric study enrolling patients with variants in one of the four ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease
Benedikt Schoser, Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Diaz-Manera, Pascal Laforet, Mark Roberts, Antonio Toscano, Ans. T. Van der Ploeg, Blaž Koritnik
Izvirni znanstveni članek
Oznake: glycogen storage disease type II;alpha glucosidase;myozyme;n-butyldeoxynojirimycin;Lysosomal storage disorders;
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 3
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