Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Pauline Hensman"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract Objective Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare disease. We present a c
Externí odkaz:
https://doaj.org/article/d05186e2d2b4437880312a6e8e782a31
Autor:
Simon Jones, Mahmut Coker, Antonio González-Meneses López, Jennifer Sniadecki, Jill Mayhew, Pauline Hensman, Agnieszka Jurecka
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100774- (2021)
Vestronidase alfa is an enzyme replacement therapy for mucopolysaccharidosis VII (MPS VII). In this open-label, phase 1/2 study, three subjects with MPS VII received intravenous vestronidase alfa administered every other week (QOW) for 14 weeks (2 mg
Externí odkaz:
https://doaj.org/article/297f569dcaed4705b7582aae504318a9
Autor:
Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard, Neil Oxborrow, Rossella Parini, Amy Robinson, Elke Schubert Hjalmarsson, Klane K. White, Frits A. Wijburg
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Abstract Background In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily living. Unfortunately,
Externí odkaz:
https://doaj.org/article/3516abfc646b46ba92eb0ac2089ec009
Autor:
A. Broomfield, Clare E. Beesley, Karen Tylee, C. Stewart, Jane Roberts, S. Santra, Maureen Cleary, Anupam Chakrapani, Uma Ramaswami, Elisabeth Jameson, Simon Jones, S. Vijay, Julian Raiman, B. Schwahn, James Davison, Stephan Rust, S. Sreekantam, Pauline Hensman
Publikováno v:
Molecular Genetics and Metabolism. 129:98-105
The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is reported. Median length of follow up was 10 years 3 months (range = 1 y 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e1647d25e19b6a186f4edfcb45c22cf
https://doi.org/10.1016/j.ymgme.2019.07.016
https://doi.org/10.1016/j.ymgme.2019.07.016
Autor:
Mahmut Çoker, Agnieszka Jurecka, Simon Jones, Jill Mayhew, Jennifer Sniadecki, Pauline Hensman, Antonio Gonzalez-Meneses Lopez
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100774-(2021)
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100774-(2021)
Vestronidase alfa is an enzyme replacement therapy for mucopolysaccharidosis VII (MPS VII). In this open-label, phase 1/2 study, three subjects with MPS VII received intravenous vestronidase alfa administered every other week (QOW) for 14 weeks (2 mg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be45013b38230c30bb24d1fc1804c294
http://europepmc.org/articles/PMC8178115
http://europepmc.org/articles/PMC8178115
Objective-Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare disease. We present a cohort of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c996fe9e4fc0066810543824de6e04b
https://doi.org/10.21203/rs.2.20560/v1
https://doi.org/10.21203/rs.2.20560/v1
Autor:
S Bukhari, N Finnegan, Fiona Stewart, Roberto Ramirez, A. Broomfield, N B Wright, K Zuberi, Gill Moss, Simon Jones, Robert W.M. Walker, Jean Mercer, Pauline Hensman
Publikováno v:
Child's Nervous System. 34:1705-1716
This study examines the long-term outcomes of paediatric Morquio (MPS IVA) patients undergoing cervical spine surgery and evaluates the factors that impacting this. A retrospective review was performed on all MPS IVA patients undergoing cervical spin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb1c1cc7c42d667a148224f0fc58008
https://doi.org/10.1007/s00381-018-3823-9
https://doi.org/10.1007/s00381-018-3823-9
Autor:
Arunabha Ghosh, Emmanouil Morakis, Simon Jones, Jean Mercer, Andrew Oldham, Pauline Hensman, Alexander Broomfield, Karolina M. Stepien
Publikováno v:
Molecular Genetics and Metabolism. 129:S34-S35
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9f9e61574f924df2121208b68cbfe1d
https://doi.org/10.1016/j.ymgme.2019.11.064
https://doi.org/10.1016/j.ymgme.2019.11.064
Autor:
Rossella Parini, Moyo C. Kruyt, Neil Oxborrow, Amy Robinson, Eveline J. Langereis, Deborah M. Eastwood, Simon Jones, Gé-Ann Kuiper, Johanna H. van der Lee, William G. Mackenzie, Sandra Breyer, Frits A. Wijburg, Klane K. White, Peter M. van Hasselt, René M. Castelein, Elke Schubert Hjalmarsson, Christophe Garin, Vladimir Kenis, Marco Carbone, Nathalie Guffon, Paul J. Orchard, Pauline Hensman
Publikováno v:
Orphanet journal of rare diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Background In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily living. Unfortunately, it is no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::430aba4cabd0cdd7a8fe01538e9ff4db
https://pure.amc.nl/en/publications/treatment-of-thoracolumbar-kyphosis-in-patients-with-mucopolysaccharidosis-type-i-results-of-an-international-consensus-procedure(60904828-f42b-49eb-9bee-e83ca4d1eb70).html
https://pure.amc.nl/en/publications/treatment-of-thoracolumbar-kyphosis-in-patients-with-mucopolysaccharidosis-type-i-results-of-an-international-consensus-procedure(60904828-f42b-49eb-9bee-e83ca4d1eb70).html
Autor:
Alexander Broomfield, Arunabha Ghosh, Karolina M. Stepien, Stuart Wilkinson, Jean Mercer, Pauline Hensman, Simon Jones, Andrew Oldham
Publikováno v:
Molecular Genetics and Metabolism. 129:S35
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0e9e9e7b194758d43764831e9f7dc1a
https://doi.org/10.1016/j.ymgme.2019.11.065
https://doi.org/10.1016/j.ymgme.2019.11.065