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mais informações
Artigos Científicos
*** MPS EM GERAL ***

Farmacovigilância: Reações Adversas a Medicamentos - Boletim informativo do CIM-RS (2008)

Mucopolysaccharidoses in Brazil: What Happens From Birth to Biochemical Diagnosis? - American Journal of Medical Genetics (2008)

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases - Clinica Chimica Acta (2006)

Enzyme Assays on Dried Blood Filter Paper Samples for Specific Detection of Selected Inherited Lysosomal Storage Diseases - Current Medical Literature (2007)

*** MPS I ***

Consenso de diagnóstico y tratamiento de la mucopolisacaridosis de tipo I - Arch Argent Pediatr (2008)

Guidelines for the Investigation and Management of Mucopolysaccharidosis type I - Department of Health, UK (2008)

*** MPS II ***

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) - Genetics IN Medicine (2006)

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II - Jornal de Pediatria (2006)

Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II - Jornal de Pediatria (2006)

Guidelines for the Investigation and Management of Mucopolysaccharidosis type II - Department of Health, UK (2008)

*** MPS VI ***

ERT for MPS VI: A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Study and Follow-on, Open Label Extension Study - Jornal de Pediatria (2006)

Threshold Effect of Urinary Glycosaminoglycans and the Walk Test as indicator of Disease Progression in a Survey of Subjects With Mucopolysaccharidoses VI - American Journal of Medical Genetics (2005)

Assessment of joint mobility and grip and pinch strength - Jornal de Pediatria (2008)

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça - Jornal de Pediatria (2008)

Management Guidelines for Mucopolysaccharidosis VI - Pediatrics (2007)

Guidelines for the Investigation and Management of Mucopolysaccharidosis type VI - Department of Health, UK (2008)

Alder-Reilly Anomaly in Patients With Mucopolysaccharidosis VI - Rev HCPA (2008)


Centro Coordenador
Serviço de Genética Médica
Hospital de Clínicas de Porto Alegre
Rua Ramiro Barcelos, 2350 - POA / RS
CEP 90035-903 | Fone (51) 33598011 / 08005102030
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