Ausgabe 2/2013
Mucopolysaccharidosis
Inhalt (22 Artikel)
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
Laura M. Pollard, Julie R. Jones, Tim C. Wood
Respiratory and sleep disorders in mucopolysaccharidosis
Kenneth I. Berger, Simone C. Fagondes, Roberto Giugliani, Karen A. Hardy, Kuo Sheng Lee, Ciarán McArdle, Maurizio Scarpa, Martin J. Tobin, Susan A. Ward, David M. Rapoport
Anaesthesia and airway management in mucopolysaccharidosis
Robert Walker, Kumar G. Belani, Elizabeth A. Braunlin, Iain A. Bruce, Henrik Hack, Paul R. Harmatz, Simon Jones, Richard Rowe, Guirish A. Solanki, Barbara Valdemarsson
Endothelial function in children and adolescents with mucopolysaccharidosis
Aaron S. Kelly, Andrea M. Metzig, Julia Steinberger, Elizabeth A. Braunlin
Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
Marion M. M. G. Brands, Ingrid M. Frohn-Mulder, Marloes L. C. Hagemans, Wim C. J. Hop, Esmee Oussoren, Wim A. Helbing, Ans T. van der Ploeg
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII
Daniel J. Rowan, Shunji Tomatsu, Jeffrey H. Grubb, Adriana M. Montaño, William S. Sly
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans
Minke H. de Ru, Linda van der Tol, Naomi van Vlies, Brian W. Bigger, Carla E. M. Hollak, Lodewijk IJlst, Wim Kulik, Henk van Lenthe, Muhammad A. Saif, Tom Wagemans, Willem M. van der Wal, Ronald J. Wanders, Frits A. Wijburg
Characterisation of the T cell and dendritic cell repertoire in a murine model of mucopolysaccharidosis I (MPS I)
Louise D Archer, Kia J Langford-Smith, William R Critchley, Brian W Bigger, James E Fildes
Management of mucopolysaccharidosis type IH (Hurler’s syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution’s experience
Daniel H. Wiseman, Jean Mercer, Karen Tylee, Nilima Malaiya, Denise K. Bonney, Simon A. Jones, J Edmond Wraith, Robert F. Wynn
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease
J. de Ruijter, L. IJlst, W. Kulik, H. van Lenthe, T. Wagemans, N. van Vlies, F. A. Wijburg
Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID)
Sheena Grant, Elaine Cross, James Edmond Wraith, Simon Jones, Louise Mahon, Michelle Lomax, Brian Bigger, Dougal Hare
Diagnosing mucopolysaccharidosis IVA
Timothy C. Wood, Katie Harvey, Michael Beck, Maira Graeff Burin, Yin-Hsiu Chien, Heather J. Church, Vânia D’Almeida, Otto P. van Diggelen, Michael Fietz, Roberto Giugliani, Paul Harmatz, Sara M. Hawley, Wuh-Liang Hwu, David Ketteridge, Zoltan Lukacs, Nicole Miller, Marzia Pasquali, Andrea Schenone, Jerry N. Thompson, Karen Tylee, Chunli Yu, Christian J. Hendriksz
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA
Christian J. Hendriksz, Maisoon Al-Jawad, Kenneth I. Berger, Sara M. Hawley, Rebecca Lawrence, Ciarán Mc Ardle, C. Gail Summers, Elizabeth Wright, Elizabeth Braunlin
Intellectual and neurological functioning in Morquio syndrome (MPS IVa)
J. E. Davison, S. Kearney, J. Horton, K. Foster, A. C. Peet, C. J. Hendriksz
MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome)
Guirish A. Solanki, William B. Lo, Christian J. Hendriksz
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management
Guirish A. Solanki, Kenneth W. Martin, Mary C. Theroux, Christina Lampe, Klane K. White, Renée Shediac, Christian G. Lampe, Michael Beck, William G. Mackenzie, Christian J. Hendriksz, Paul R. Harmatz
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI
Ana C. M. Azevedo, Osvaldo Artigalás, Leonardo Vedolin, Márcia Komlós, Adriana Pires, Roberto Giugliani, Ida Vanessa D. Schwartz
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI
Rosa Bartolomeo, Elena V. Polishchuk, Nicola Volpi, Roman S. Polishchuk, Alberto Auricchio
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)
Christian J. Hendriksz, Roberto Giugliani, Paul Harmatz, Christina Lampe, Ana Maria Martins, Gregory M. Pastores, Robert D. Steiner, Elisa Leão Teles, Vassili Valayannopoulos
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
E. Braunlin, H. Rosenfeld, C. Kampmann, J. Johnson, M. Beck, R. Giugliani, N. Guffon, D. Ketteridge, C. M. Sá Miranda, M. Scarpa, I. V. Schwartz, E. Leão Teles, J. E. Wraith, P. Barrios, E. Dias da Silva, G. Kurio, M. Richardson, G. Gildengorin, J. J. Hopwood, M. Imperiale, A. Schatz, C. Decker, P. Harmatz