Browsing Research Articles (Paediatrics and Child Health) by Subject "Enzyme replacement therapy"

Browsing Research Articles (Paediatrics and Child Health) by Subject "Enzyme replacement therapy"

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  • Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA 
    Bruce, Iain A.; Ezgu, Fatih S.; Kampmann, Christoph; Kenis, Vladimir; Mackenzie, William; Stevens, Bob; Walker, Robert; Hendriksz, Christian J. (BioMed Central, 2022-03)
    BACKGROUND : Patients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focused ...
  • Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients 
    Giugliani, R.; Harmatz, P.; Jones, S.A.; Mendelsohn, N.J.; Vellodi, A.; Qiu, Y.; Hendriksz, Christian J.; Vijayaraghavan, S.; Whiteman, D.A.H.; PAno, A. (Elsevier, 2017-09)
    OBJECTIVES : This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of ...
  • Health-related quality of life in mucopolysaccharidosis : looking beyond biomedical issues 
    Hendriksz, Christian J.; Berger, Kenneth I.; Lampe, Christina; Kircher, Susanne G.; Orchard, Paul J.; Southall, Rebecca; Long, Sarah; Sande, Stephen; Gold, Jeffrey I. (BioMed Central, 2016-08-26)
    The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders ...
  • Recommendations for the management of MPS IVA : systematic evidence- and consensus-based guidance 
    Akyol, Mehmet Umut; Alden, Tord D.; Amartino, Hernan; Ashworth, Jane; Belani, Kumar; Berger, Kenneth I.; Borgo, Andrea; Braunlin, Elizabeth; Eto, Yoshikatsu; Gold, Jeffrey I.; Jester, Andrea; Jones, Simon A.; Karsli, Cengiz; Mackenzie, William; Marinho, Diane Ruschel; McFadyen, Andrew; McGill, Jim; Mitchell, John J.; Muenzer, Joseph; Okuyama, Torayuki; Orchard, Paul J.; Stevens, Bob; Thomas, Sophie; Walker, Robert; Wynn, Robert; Giugliani, Roberto; Harmatz, Paul; Hendriksz, Christian J.; Scarpa, Maurizio (BioMed Central (BMC), 2019-06)
    INTRODUCTION: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs ...