Browsing Workspace (UPSpace) by UP Author "Hendriksz, Christian J."

Browsing Workspace (UPSpace) by UP Author "Hendriksz, Christian J."

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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 ...
  • The genetics of inherited cholestatic disorders in neonates and infants : evolving challenges 
    Jeyaraj, Rebecca; Bounford, Kirsten McKay; Ruth, Nicola; Lloyd, Carla; MacDonald, Fiona; Hendriksz, Christian J.; Baumann, Ulrich; Gissen, Paul; Kelly, Deirdre (MDPI, 2021-11-21)
    Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver ...
  • MPS VII – Extending the classical phenotype 
    Oldham, A.; Oxborrow, N.J.; Woolfson, P.; Jenkins, P.; Gadepalli, C.; Ashworth, J.; Saxena, A.; Rothera, M.; Hendriksz, Christian J.; Tol, G.; Jovanovic, A. (Elsevier, 2022-12)
    Mucopolysaccharidosis VII (or Sly syndrome) is an autosomal recessive disorder characterised by a deficiency in the enzyme Beta-glucuronidase (GUSB). Partial degradation of glycosaminoglycans (GAGs); chondroitin sulfate ...