Zobrazeno 1 - 10
of 131
pro vyhledávání: '"James E Wraith"'
Autor:
James E Wraith, Jackie Imrie
Publikováno v:
Therapeutics and Clinical Risk Management, Vol 2009, Iss default, Pp 877-887 (2009)
James E Wraith, Jackie ImrieWillink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UKAbstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deteriorati
Externí odkaz:
https://doaj.org/article/33acba7c06404c4685a8e9d10f38268e
Autor:
James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm
Publikováno v:
Педиатрическая фармакология, Vol 7, Iss 1, Pp 16-24 (2010)
(Pediatric Pharmacology. – 2010; 7(1):16-24)
Externí odkaz:
https://doaj.org/article/a2f8e54d5f36471f9c310d286edcb43d
Autor:
Frances M. Platt, Simon Jones, David A. Priestman, Su Han Lum, Christian J. Hendriksz, Ana Jovanovic, Karolina M. Stepien, James E. Wraith, Heather J. Church, Rob Wynn
Publikováno v:
JIMD Reports ISBN: 9783662580806
Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8235216c228fe3463aa274882fd31b49
https://doi.org/10.1007/8904_2017_76
https://doi.org/10.1007/8904_2017_76
Autor:
Tobias, Schwerd, Sumeet, Pandey, Huei-Ting, Yang, Katrin, Bagola, Elisabeth, Jameson, Jonathan, Jung, Robin H, Lachmann, Neil, Shah, Smita Y, Patel, Claire, Booth, Heiko, Runz, Gesche, Düker, Ruth, Bettels, Marianne, Rohrbach, Subra, Kugathasan, Helen, Chapel, Satish, Keshav, Abdul, Elkadri, Nick, Platt, Alexio M, Muise, Sibylle, Koletzko, Ramnik J, Xavier, Thorsten, Marquardt, Fiona, Powrie, James E, Wraith, Mads, Gyrd-Hansen, Frances M, Platt, Holm H, Uhlig
Publikováno v:
Gut
Objective Patients with Niemann–Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with IBD, but neither the significance nor the functional mechanism of this association is c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3faa84dafc9584ec2e683c7cc1b9c237
https://www.zora.uzh.ch/id/eprint/132713/
https://www.zora.uzh.ch/id/eprint/132713/
Autor:
Martin Grootveld, Daniel J. Sillence, Victor Ruiz-Rodado, Peter E. Clayton, Jackie Imrie, Frances M. Platt, D te Vruchte, Robin H. Lachmann, David Elizondo, Christian J. Hendriksz, James E. Wraith, Rafael Marcos Luque-Baena, Fay Probert
Publikováno v:
Current Metabolomics. 2:88-121
Niemann-Pick Class 1 (NPC1) disease is a rare, debilitating neurodegenerative lysosomal storage disease; however, urinary biomarkers available for it and its prognosis are currently limited. In order to identify and establish such biomarkers, we empl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f8fe0effac540d5121dd9ae43bf641f
https://doi.org/10.2174/2213235x02666141112215616
https://doi.org/10.2174/2213235x02666141112215616
Publikováno v:
The Annals of Otology, Rhinology, and Laryngology
Objective: Mucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to the nonspecific nature of the early symptoms, is often unrecognized and associated with significant diagnostic delays. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450296a6b9bc256a25971d3db319c083
https://doi.org/10.1177/0003489414550154
https://doi.org/10.1177/0003489414550154
Autor:
James E. Wraith, David Ketteridge, Elisa Leão-Teles, Cheri Piscia-Nichols, Christina Lampe, Ping Lin, Adrian Quartel, Roberto Giugliani, Nathalie Guffon, Paul Harmatz, Simon Jones
Publikováno v:
American Journal of Medical Genetics Part A. 164:1953-1964
Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetylgalactosamine-4-sulfatase activity. A cross-sectional Survey Study in individuals (n = 121) affected w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9632f13336f5357bee549538d680791
https://doi.org/10.1002/ajmg.a.36584
https://doi.org/10.1002/ajmg.a.36584
Autor:
Robert W.M. Walker, Vikas Malik, Simon Jones, Jaya Nichani, M P Rothera, Iain A. Bruce, James E. Wraith
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 77:1204-1208
Objective Patients with mucopolysaccharidosis type II (MPS II) may develop progressive multi-level upper airway obstruction. Despite the unique challenges presented by these complex patients, tracheostomy remains an important intervention to safeguar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::942628433ea04c8d2b41b84a0d279747
https://doi.org/10.1016/j.ijporl.2013.05.002
https://doi.org/10.1016/j.ijporl.2013.05.002
Autor:
James E. Wraith, Christian J. Hendriksz, Michael C Fahey, Frits A. Wijburg, Frédéric Sedel, Stefan A. Kolb, Mark Walterfang, Mercedes Pineda, Harbajan Chadha-Boreham, Marc C. Patterson
Publikováno v:
Journal of inherited metabolic disease, 37(1), 93-101. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
Objective The Suspicion Index (SI) screening tool was developed to identify patients suspected of having Niemann-Pick disease type C (NP-C). The SI provides a risk prediction score (RPS) based on NP-C manifestations within and across domains (viscera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::780e9d915ab35b897771f453789ee938
https://doi.org/10.1007/s10545-013-9626-y
https://doi.org/10.1007/s10545-013-9626-y
Autor:
Frances M. Platt, Eugen Mengel, David Smith, Dawn Shepherd, R. Hartung, Heiko Runz, Mathias Beck, Mariolina Salio, Anneliese O. Speak, Forbes D. Porter, Gurdyal S. Besra, Louise Simmons, D te Vruchte, James E. Wraith, Christian J. Hendriksz, Natacha Veerapen, Vincenzo Cerundolo, Nicole M. Yanjanin, Robin H. Lachmann, N Platt, Jackie Imrie
Publikováno v:
European Journal of Immunology. 42:1886-1892
Invariant natural killer T (iNKT) cells are a specialised subset of T cells that are restricted to the MHC class I like molecule, CD1d. The ligands for iNKT cells are lipids, with the canonical superagonist being α-galactosylceramide, a non-mammalia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7859c0989e5b56514c5b92752bb310d
https://doi.org/10.1002/eji.201141821
https://doi.org/10.1002/eji.201141821