A Clinical Study Of 77 Patients With Mucopolysaccharidosis Type Ii

dc.creatorSchwartz I.V.D.
dc.creatorRibeiro M.G.
dc.creatorMota J.G.
dc.creatorToralles M.B.P.
dc.creatorCorreia P.
dc.creatorHorovitz D.
dc.creatorSantos E.S.
dc.creatorMonlleo I.L.
dc.creatorFett-Conte A.C.
dc.creatorSobrinho R.P.O.
dc.creatorNorato D.Y.
dc.creatorPaula A.C.
dc.creatorKim C.A.
dc.creatorDuarte A.R.
dc.creatorBoy R.
dc.creatorValadares E.
dc.creatorDe Michelena M.
dc.creatorMabe P.
dc.creatorMartinhago C.D.
dc.creatorPina-Neto J.M.
dc.creatorKok F.
dc.creatorLeistner-Segal S.
dc.creatorBurin M.G.
dc.creatorGiugliani R.
dc.date2007
dc.date2015-06-30T18:47:58Z
dc.date2015-11-26T14:36:23Z
dc.date2015-06-30T18:47:58Z
dc.date2015-11-26T14:36:23Z
dc.date.accessioned2018-03-28T21:40:10Z
dc.date.available2018-03-28T21:40:10Z
dc.identifier
dc.identifierActa Paediatrica, International Journal Of Paediatrics. , v. 96, n. SUPPL. 455, p. 63 - 70, 2007.
dc.identifier8035253
dc.identifier10.1111/j.1651-2227.2007.00212.x
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-33947590635&partnerID=40&md5=953954873fef005c6be1f2ff160c6026
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/104841
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/104841
dc.identifier2-s2.0-33947590635
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1248726
dc.descriptionAim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). Methods: Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients. Results: Mean birth weight was 3360 g, median age at onset of symptoms was 18 months and median age at diagnosis was 6 years. For the whole sample (median age, 8.2 years; range, 2.8-53.0 years), neurological degeneration, typical pebbly skin lesions, seizures and extensive dermal melanocytosis were found in 23.3, 13.0, 13.0 and 1.3% of the cases, respectively. The most frequently reported echocardiogram abnormality was mitral valve regurgitation. Refraction errors were the most common ophthalmological manifestation. The following characteristics were found to be associated with the severe form of MPS II: earlier age at biochemical diagnosis, higher levels of urinary glycosaminoglycans, language development delay, behavioural disturbances, poor school performance and mental retardation. Conclusion: Our results suggest that there is a considerable delay between the onset of signs and symptoms and the diagnosis of MPS II in Brazil (and probably in South America as well), and that many complications of this disease are underdiagnosed and undertreated. Therefore, the implementation of programmes aiming to increase the awareness of the disease, the availability of biochemical diagnostic tests and the provision of better support to affected patients is urgently needed. © 2007 The Author(s).
dc.description96
dc.descriptionSUPPL. 455
dc.description63
dc.description70
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dc.languageen
dc.publisher
dc.relationActa Paediatrica, International Journal of Paediatrics
dc.rightsfechado
dc.sourceScopus
dc.titleA Clinical Study Of 77 Patients With Mucopolysaccharidosis Type Ii
dc.typeActas de congresos


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