Browsing Biological Sciences by Author "Eisengart, Julie B."

Now showing items 1-3 of 3

    • 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) [Journal article]
      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 ...

    • Long-term outcomes of systemic therapies for Hurler syndrome : an international multicenter comparison 

      Eisengart, Julie B.; Rudser, Kyle D.; Xue, Yong; Orchard, Paul J.; Miller, Weston P.; Lund, Troy C.; Van Der Ploeg, Ans T.; Mercer, Jean; Jones, Simon A.; Mengel, Karl Eugen; Gökce, Seyfullah; Guffon, Nathalie; Giugliani, Roberto; Souza, Carolina Fischinger Moura de; Shapiro, Elsa G.; Whitley, Chester B. (2018) [Journal article]
      Purpose: Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate ...

    • 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) [Journal article]
      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 ...