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| Pereira,F.S.; Jardim,L.B.; Netto,C.B.; Burin,M.G.; Cecchin,C.; Giugliani,R.; Matte,U.S.. |
| Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the a-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fabry disease; Lysosomal disorders; A-Galactosidase A; Globotriaosylceramide storage; GLA gene. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007001200002 |
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| Castilhos,R.M.; Blank,D.; Netto,C.B.O.; Souza,C.F.M.; Fernandes,L.N.T.; Schwartz,I.V.D.; Giugliani,R.; Jardim,L.B.. |
| Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopathies and to present validating data for JOA in these diseases. A new scale, Severity Score System for Progressive Myelopathy (SSPROM), covering motor disability, sphincter dysfunction, spasticity, and sensory losses. Inter- and intra-rater reliabilities were measured. External validation was tested by applying JOA, the Expanded Disability Status Scale (EDSS), the Barthel index, and the Osame Motor... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Japanese Orthopaedic Association; Severity Score System for Progressive Myelopathy; Mucopolysaccharidosis; Mucolipidosis; Adrenomyeloneuropathy; Progressive myelopathies. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000700001 |
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| Silva,R.C.R.; Saute,J.A.M.; Silva,A.C.F.; Coutinho,A.C.O.; Saraiva-Pereira,M.L.; Jardim,L.B.. |
| Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determined in these diseases. Our aim was to investigate the effect of OT on both physical disabilities and depressive symptoms of spinocerebellar ataxia type 3 (SCA3) patients. Genomically diagnosed SCA3 patients older than 18 years were invited to participate in the study. Disability, as evaluated by functional independence measurement and Barthel incapacitation score, Hamilton Rating Scale for Depression,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Spinocerebellar ataxia 3; Occupational therapy; Rehabilitation; Depression; Machado-Joseph disease; Polyglutamine diseases. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000600003 |
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