N. Guffon-Fouilhoux
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Child Nutrition and Feeding Issues, Carbohydrate Chemistry and Synthesis, Trypanosoma species research and implications
Most-Cited Works
- → Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients(2016)30 cited
- → Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease(2017)27 cited
- → The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)(2024)18 cited
- → Mucopolysaccharidose de type I : intérêt d’un diagnostic et d’une enzymothérapie substitutive précoces. À propos d’un cas(2008)6 cited
- → Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia(2022)5 cited
- → Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®)(2011)
- → P4.50 Results of prolonged follow-up of late-onset Pompe disease treated with alglucosidase alfa (Myozyme)(2010)