1 resultado para Biochemical and molecularcharacterization
em Universidade Federal do Pará
Filtro por publicador
- Rhode Island School of Design (8)
- ABACUS. Repositorio de Producción Científica - Universidad Europea (1)
- Acceda, el repositorio institucional de la Universidad de Las Palmas de Gran Canaria. España (1)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (11)
- AMS Tesi di Laurea - Alm@DL - Università di Bologna (1)
- Aquatic Commons (29)
- Archimer: Archive de l'Institut francais de recherche pour l'exploitation de la mer (1)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (1)
- Aston University Research Archive (13)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (18)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (23)
- Biblioteca Digital de Teses e Dissertações Eletrônicas da UERJ (13)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (29)
- Brock University, Canada (6)
- CaltechTHESIS (7)
- CentAUR: Central Archive University of Reading - UK (54)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (43)
- Cochin University of Science & Technology (CUSAT), India (21)
- CORA - Cork Open Research Archive - University College Cork - Ireland (5)
- Deakin Research Online - Australia (30)
- Department of Computer Science E-Repository - King's College London, Strand, London (1)
- DI-fusion - The institutional repository of Université Libre de Bruxelles (2)
- Digital Commons - Michigan Tech (3)
- Digital Commons at Florida International University (7)
- Digital Repository at Iowa State University (26)
- DigitalCommons@The Texas Medical Center (19)
- DigitalCommons@University of Nebraska - Lincoln (2)
- DRUM (Digital Repository at the University of Maryland) (2)
- Duke University (7)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (7)
- Glasgow Theses Service (1)
- Helda - Digital Repository of University of Helsinki (15)
- Illinois Digital Environment for Access to Learning and Scholarship Repository (1)
- Indian Institute of Science - Bangalore - Índia (155)
- Instituto Gulbenkian de Ciência (1)
- Instituto Politécnico do Porto, Portugal (2)
- Lume - Repositório Digital da Universidade Federal do Rio Grande do Sul (2)
- National Center for Biotechnology Information - NCBI (39)
- Plymouth Marine Science Electronic Archive (PlyMSEA) (2)
- Portal de Revistas Científicas Complutenses - Espanha (2)
- Publishing Network for Geoscientific & Environmental Data (4)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (84)
- Queensland University of Technology - ePrints Archive (41)
- ReCiL - Repositório Científico Lusófona - Grupo Lusófona, Portugal (1)
- Repositório Científico da Universidade de Évora - Portugal (1)
- Repositório Digital da UNIVERSIDADE DA MADEIRA - Portugal (2)
- Repositório Institucional da Universidade de Aveiro - Portugal (10)
- Repositório Institucional da Universidade Estadual de São Paulo - UNESP (1)
- Repositório Institucional da Universidade Federal do Rio Grande - FURG (1)
- Repositorio Institucional de la Universidad Pública de Navarra - Espanha (1)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (139)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (1)
- SAPIENTIA - Universidade do Algarve - Portugal (1)
- Scielo España (3)
- Universidad de Alicante (1)
- Universidad del Rosario, Colombia (8)
- Universidad Politécnica de Madrid (1)
- Universidade de Lisboa - Repositório Aberto (4)
- Universidade Estadual Paulista "Júlio de Mesquita Filho" (UNESP) (1)
- Universidade Federal do Pará (1)
- Universidade Federal do Rio Grande do Norte (UFRN) (11)
- Universitat de Girona, Spain (2)
- Universitätsbibliothek Kassel, Universität Kassel, Germany (1)
- Université de Lausanne, Switzerland (6)
- Université de Montréal (1)
- Université de Montréal, Canada (15)
- University of Michigan (1)
- University of Queensland eSpace - Australia (7)
- University of Washington (1)
- WestminsterResearch - UK (3)
Resumo:
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 analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers.