Management guidelines for mucopolysaccharidosis VI.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controlled trials, meta-analyses, systematic reviews, and expert opinion. In support of this goal, comprehensive management guidelines have been drafted by an international group of experts in the management of patients with mucopolysaccharidosis VI. The guidelines provide a detailed outline of disease manifestations by body system, recommendations for regular assessments, and an overview of current treatment options.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Roberto
R
Giugliani
Paul
P
Harmatz
James E
JE
Wraith
D019468:Disease Management; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D016032:Randomized Controlled Trials as Topic / Q000379:methods / Q000592:standards