Zobrazeno 1 - 10
of 209
pro vyhledávání: '"Je, Wraith"'
Publikováno v:
Acta Paediatrica. 91:799-804
UNLABELLED The aims of this study were to evaluate cardiac involvement, assess risk factors and mortality, and define the outcome of cardiac abnormalities with age in the different types of mucopolysaccharidoses (MPS). The echocardiograms of 99 patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7bbfa073c07e0c733aec739a5334cdda
https://doi.org/10.1111/j.1651-2227.2002.tb03330.x
https://doi.org/10.1111/j.1651-2227.2002.tb03330.x
Publikováno v:
Archives of Disease in Childhood. 90:1239-1242
AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the USA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35faa49b2524b7347692c87e207f6217
https://doi.org/10.1136/adc.2004.065482
https://doi.org/10.1136/adc.2004.065482
Publikováno v:
Clinical Genetics. 62:418-421
Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::566200ea01e9fedea1e8772a3edbded4
https://doi.org/10.1034/j.1399-0004.2002.620512.x
https://doi.org/10.1034/j.1399-0004.2002.620512.x
Publikováno v:
Clinical Genetics. 27:408-410
A baby with holoprosencephaly and the tetralogy of Fallot is described. The mother had operative correction of the same cardiac lesion and shows features typical of the velo-cardio-facial syndrome, an autosomal dominant disorder. The association betw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1a6b03e126b591adfe34adc737700c2
https://doi.org/10.1111/j.1399-0004.1985.tb02284.x
https://doi.org/10.1111/j.1399-0004.1985.tb02284.x
Publikováno v:
Value in Health. 12(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bcec1d7332d1e50ffff795ffe8d2b4
Publikováno v:
Clinical genetics. 71(5)
We have conducted a study to assess the opinions of parents of individuals with mucopolysaccharidoses (MPS) and adults with MPS regarding newborn screening (NBS) for this condition, as testing is now technically possible. A questionnaire including a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e014e203a65a96a096f1346eed026bf8
https://pubmed.ncbi.nlm.nih.gov/17489850
https://pubmed.ncbi.nlm.nih.gov/17489850
Publikováno v:
Acta Paediatrica. 84:337-339
The presenting features of 39 patients with mucopolysaccharidosis (MPS) type IH are described. The mean age at diagnosis was approximately 9 months and it is difficult to see how this can be reduced without consideration of newborn screening. An earl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1214e02388485b68cd0228a5d4eb6555
https://doi.org/10.1111/j.1651-2227.1995.tb13640.x
https://doi.org/10.1111/j.1651-2227.1995.tb13640.x
Autor:
Lj, Fairbairn, Ls, Lashford, Spooncer E, Rh, Mcdermott, Lebens G, Je, Arrand, Jr, Arrand, Ilaria Bellantuono, Holt R, Ce, Hatton, Cooper A, Gt, Besley, Je, Wraith, Ds, Anson, Jj, Hopwood, Tm, Dexter
Publikováno v:
Europe PubMed Central
Allogeneic bone marrow transplantation is the most effective treatment for Hurler's syndrome. However, due to a lack of matched related donors and unacceptable morbidity of matched unrelated transplants, this therapy is not available to all patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fac558ac96960392f43693aa5495bc19
https://pubmed.ncbi.nlm.nih.gov/9127508
https://pubmed.ncbi.nlm.nih.gov/9127508
Autor:
Ghosh A; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.; Stem Cell and Neurotherapies, Division of Cell Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK., Rust S; Paediatric Psychosocial Service, Manchester University NHS Foundation Trust, Manchester, UK., Langford-Smith K; Stem Cell and Neurotherapies, Division of Cell Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK., Weisberg D; Paediatric Psychosocial Service, Manchester University NHS Foundation Trust, Manchester, UK., Canal M; Division of Neuroscience and Experimental Psychology, University of Manchester, Manchester, UK., Breen C; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Hepburn M; Wellcome Trust Children's Clinical Research Facility, Royal Manchester Children's Hospital, Manchester, UK., Tylee K; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK., Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Vail A; Centre for Biostatistics, School of Health Sciences, University of Manchester, UK., Wijburg F; Amsterdam UMC, location Academic Medical Center, Amsterdam, Netherlands., O'Leary C; Stem Cell and Neurotherapies, Division of Cell Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK., Parker H; Stem Cell and Neurotherapies, Division of Cell Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK., Wraith JE; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK., Bigger BW; Stem Cell and Neurotherapies, Division of Cell Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK., Jones SA; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Sep; Vol. 44 (5), pp. 1248-1262. Date of Electronic Publication: 2021 Jun 13.
Autor:
Stepien KM; The Mark Holland Metabolic Unit, Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, UK. kstepien@doctors.org.uk., Lum SH; Department of Paediatric Blood and Marrow Transplant, Royal Manchester Children's Hospital, Manchester, UK., Wraith JE; Willink Biochemical Genetics Department, St. Mary's Hospital, Manchester, UK., Hendriksz CJ; The Mark Holland Metabolic Unit, Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, UK.; Steve Biko Academic Unit, Paediatrics and Child Health, University of Pretoria, Pretoria, South Africa., Church HJ; Willink Biochemical Genetics Department, St. Mary's Hospital, Manchester, UK., Priestman D; Department of Pharmacology, University of Oxford, Oxford, UK., Platt FM; Department of Pharmacology, University of Oxford, Oxford, UK., Jones S; Willink Biochemical Genetics Department, St. Mary's Hospital, Manchester, UK., Jovanovic A; The Mark Holland Metabolic Unit, Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, UK., Wynn R; Department of Paediatric Blood and Marrow Transplant, Royal Manchester Children's Hospital, Manchester, UK.
Publikováno v:
JIMD reports [JIMD Rep] 2018; Vol. 41, pp. 17-23. Date of Electronic Publication: 2017 Dec 07.