Browsing Biological Sciences by Author "Whitley, Chester B."

Now showing items 1-2 of 2

    • Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry 

      Clarke, Lorne A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Keenan, Hillary; Munõz Rojas, Maria Verônica; Okuyama, Torayuki; Viskochil, David H.; Whitley, Chester B.; Wijburg, Frits; Muenzer, Joseph (2019) [Journal article]
      Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated ...

    • 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 ...