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| Viana,Gustavo M.; Lima,Nathália O. de; Cavaleiro,Rosely; Alves,Erik; Souza,Isabel C.N.; Feio,Raimunda; Leistner-Segal,Sandra; Schwartz,Ida; Giugliani,Roberto; Silva,Luiz C. Santana da. |
| Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucopolysaccharidosis; Enzyme replacement therapy; Mutations; Glycosaminoglycans. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300007 |
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| Oliveira-Silva,José Araújo de; Yamamoto,Joyce Umbelino Pinto; Oliveira,Renata Bernardes de; Monteiro,Vaneisse Cristina Lima; Frangipani,Beatriz Jurkiewcz; Kyosen,Sandra Obikawa; Martins,Ana Maria; D’Almeida,Vânia. |
| Abstract We assessed levels of plasma selenium (Se), selenoproteins and their change after Se supplementation in patients with mucopolysaccharidosis (MPS) types I, II and VI. This was done in a retrospective study of the medical records of 30 patients with MPS I (n=13), MPS II (n=9) and MPS VI (n=8) who were being treated with enzyme replacement therapy. As part of routine nutritional monitoring, Se levels were measured, revealing that 28 patients (93.3%) had values below the normal range. Therefore, they received supplementation for 12 months, and Se was measured after 6 and 12 months. Glutathione peroxidase (GPx) activity, total glutathione (GSHt), oxidized glutathione (GSSG) and reduced glutathione (GSH) were measured at baseline and 6 months after Se... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucopolysaccharidosis; Oxidative stress; Selenium; Glutathione peroxidase. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100001 |
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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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