Navegação Ciências da Saúde por Autor "Muschol, Nicole"

Resultados 1-4 de 4

    • An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA 

      Wijburg, Frits; Aiach, Karen; Chakrapani, Anupam; Eisengart, Julie B.; Giugliani, Roberto; Héron, Benedicte; Muschol, Nicole; O’Neill, Cara; Olivier, Sophie; Parker, Samantha (2022) [Artigo de periódico]
      Mucopolysaccharidosis type IIIA (MPS IIIA, also known as Sanfilippo syndrome) is a rare genetic lysosomal storage disease characterized by early and progressive neurodegeneration resulting in a rapid decline in cognitive ...

    • Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I 

      Giugliani, Roberto; Muschol, Nicole; Keenan, Hillary; Dant, Mark; Muenzer, Joseph (2021) [Artigo de periódico]
      Objective Early diagnosis and treatment initiation are important factors for successful treatment of mucopolysaccharidosis type I (MPS I). The purpose of this observational study was to assess whether age at diagnosis and ...

    • Sanfilippo syndrome : consensus guidelines for clinical care 

      Muschol, Nicole; Giugliani, Roberto; Jones, Simon A.; Muenzer, Joseph; Smith, Nicholas J. C.; Whitley, Chester B.; Donnell, Megan; Drake, Elise; Elvidge, Kristina; Melton, Lisa; O’Neill, Cara (2022) [Artigo de periódico]
      Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological ...

    • Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints 

      Van der Lee, Johanna Hanneke; Morton, Jonathan; Adams, Heather R.; Clarke, Lorne A.; Eisengart, Julie B.; Escolar, Maria Luisa; Giugliani, Roberto; Harmatz, Paul; Hogan, Melissa; Kearney, Shauna; Muenzer, Joseph; Muschol, Nicole; Rust, Stewart; Saville, Benjamin R.; Semrud-Clikeman, Margaret T.; Wang, Raymond Y.; Shapiro, Elsa G. (2020) [Artigo de periódico]
      Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential ...