Gabriela Niizawa
University of Pittsburgh(US)Centre for the Observation and Modelling of Earthquakes, Volcanoes and Tectonics(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Carbohydrate Chemistry and Synthesis, Telomeres, Telomerase, and Senescence
Most-Cited Works
- → Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study(2015)213 cited
- → Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper(2004)182 cited
- → Twenty‐year follow‐up of newborn screening for patients with muscular dystrophy(2015)59 cited
- → Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots(2008)29 cited
- → Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations(2006)27 cited
- → A multinational study on motor function in early-onset FSHD(2018)25 cited