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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)