Zobrazeno 1 - 10
of 47
pro vyhledávání: '"J E, Wraith"'
Autor:
Alex Langford-Smith, Kia J Langford-Smith, Simon A Jones, Robert F Wynn, J E Wraith, Fiona L Wilkinson, Brian W Bigger
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e25717 (2011)
Reliable behavioural tests in animal models of neurodegenerative diseases allow us to study the natural history of disease and evaluate the efficacy of novel therapies. Mucopolysaccharidosis IIIA (MPS IIIA or Sanfilippo A), is a severe, neurodegenera
Externí odkaz:
https://doaj.org/article/2b1f553339224667a2bfb61a6db10641
Autor:
Marc C, Patterson, Christian J, Hendriksz, Mark, Walterfang, Frederic, Sedel, Marie T, Vanier, Frits, Wijburg, J E, Wraith
Publikováno v:
Molecular genetics and metabolism, 106(3), 330-344. Academic Press Inc.
Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08a8a8578bd37f253f82c0e233301c76
https://doi.org/10.1016/j.ymgme.2012.03.012
https://doi.org/10.1016/j.ymgme.2012.03.012
Autor:
J E Wraith
Publikováno v:
Developmental Medicine & Child Neurology. 43:639-646
If a group of metabolic paediatricians had been asked 10 years ago which disorders they thought would be the most treatable at the start of the new millennium, very few would have mentioned lysosomal storage disorders (LSDs). The early onset, progres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b852fcb4d5e8a31f649d3d457972664
https://doi.org/10.1111/j.1469-8749.2001.tb00249.x
https://doi.org/10.1111/j.1469-8749.2001.tb00249.x
Autor:
J E, Wraith, Simon, Jones
Publikováno v:
Pediatric endocrinology reviews : PER. 12
Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulation of the GAGs, dermatan sulfate, and heparan sulphate, The disease spectrum includes a disorder with severe involvement an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9b8e544685916339662d431cdf102ca2
https://pubmed.ncbi.nlm.nih.gov/25345091
https://pubmed.ncbi.nlm.nih.gov/25345091
Autor:
J E Wraith
Publikováno v:
Archives of Disease in Childhood. 84:84-88
The death of Jesse Gelsinger on 17 September 1999 had major effects on the gene therapy community. It brought to a halt a gene therapy clinical trial at the Institute of Human Gene Therapy, University of Pennsylvania, USA and brought to a wider audie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78c0a4c5f2f1f3c51dc13cacabc75b4f
https://doi.org/10.1136/adc.84.1.84
https://doi.org/10.1136/adc.84.1.84
Publikováno v:
Neuroradiology. 39:381-385
We reviewed MRI of the brain and cervical spine in 11 patients with Morquio's disease. No abnormality was seen in the brain. The odontoid peg was abnormal in all patients, with varying degrees of cord compression due to an anterior soft tissue mass a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920c81d2ea0f7c857609756744dee6ca
https://doi.org/10.1007/s002340050429
https://doi.org/10.1007/s002340050429
Publikováno v:
Child's Nervous System. 13:87-90
Three cases of mild mucopolysaccharidosis type II (Hunter syndrome) who presented with cervical cord compression are reported, with emphasis on their clinical presentations and surgical management.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef8c895d9f47d96a64ad3c1cd778233
https://doi.org/10.1007/s003810050049
https://doi.org/10.1007/s003810050049
Publikováno v:
The Journal of Bone and Joint Surgery. British volume. :938-944
Bone-marrow transplantation has increased the survival of patients with mucopolysaccharidosis-I. We describe the spinal problems and their management in 12 patients with this disorder who have been followed up for a mean of 4.5 years since transplant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3dad6539637a983dcce485688eb4e6ce
https://doi.org/10.1302/0301-620x.78b6.0780938
https://doi.org/10.1302/0301-620x.78b6.0780938
Publikováno v:
Journal of Inherited Metabolic Disease. 19:357-365
Patients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a327b91a317016a3d99d763825734825
https://doi.org/10.1007/bf01799267
https://doi.org/10.1007/bf01799267
Autor:
J E Wraith
Publikováno v:
Archives of Disease in Childhood. 72:263-267
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d16a00e7a0d075ebcfd58a58dc638cca
https://doi.org/10.1136/adc.72.3.263
https://doi.org/10.1136/adc.72.3.263