Gabriela Niizawa

Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

Luca Bello, Heather Gordish‐Dressman, Lauren P. Morgenroth et al. · Neurology · 2015 · 197 citations · Full text

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper

Néstor Chamoles, Gabriela Niizawa, Mariana Blanco et al. · Clinica Chimica Acta · 2004 · 181 citations

Enzymatic Screening, Biochemistry, Dried Blood Spots +7

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf et al. · The Lancet Neurology · 2021 · 169 citations · Full text

Late-onset Pompe Disease, Autoimmune Disease, Clinical Infectious Disease +3

Twenty‐year follow‐up of newborn screening for patients with muscular dystrophy

Jeffrey H. Chung, Andrea L. Smith, Sarah C. Hughes et al. · Muscle & Nerve · 2015 · 58 citations

Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots

Nicoletta Gasparotto, Rosella Tomanin, Anna Chiara Frigo et al. · Clinica Chimica Acta · 2008 · 29 citations

Biochemistry, Dried Blood Spots, Medicine +8