Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients

[1] Harmatz P(2017)Mucopolysaccharidosis VI pathophysiology diagnosis and treatment Front Biosci 22 385-406

[2] Shediac R(2018)Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene Hum Mutat 39 1788-1802

[3] Tomanin R(2010)Orthopedic management of mucopolysaccharide disease JPediatric Rehabil Med 3 47-56

[4] Karageorgos L(2016)Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues Orphanet J Rare Dis 11 119-580

[5] Zanetti A(2019)Recommendations for the management of MPS VI: systematic evidence and consensus-based guidance Orphanet J Rare Dis 14 118-76

[6] Al-Sayed M(2004)Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) J Pediatr 144 574-1964

[7] Bailey M(2013)Up to five years experience with 11 mucopolysaccharidosis type VI patients Mol Genet Metab 109 70-460

[8] Miller N(2014)Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)—10-year follow-up of patients who previously participated in an MPS VI survey study Am J Med Genet A 164 1953-1007

[9] White KK(1996)Mechanisms and management of fatigue in progressive neurological disorders Curr Opin Neurol 9 456-18

[10] Harmatz P(2019)Pain, functional disability, and their Association in Juvenile Fibromyalgia Compared to other pediatric rheumatic diseases Pediatr Rheumatol 17 72-2183

[1] Harmatz P(2017)Mucopolysaccharidosis VI pathophysiology diagnosis and treatment Front Biosci 22 385-406

[2] Shediac R(2018)Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene Hum Mutat 39 1788-1802

[3] Tomanin R(2010)Orthopedic management of mucopolysaccharide disease JPediatric Rehabil Med 3 47-56

[4] Karageorgos L(2016)Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues Orphanet J Rare Dis 11 119-580

[5] Zanetti A(2019)Recommendations for the management of MPS VI: systematic evidence and consensus-based guidance Orphanet J Rare Dis 14 118-76

[6] Al-Sayed M(2004)Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) J Pediatr 144 574-1964

[7] Bailey M(2013)Up to five years experience with 11 mucopolysaccharidosis type VI patients Mol Genet Metab 109 70-460

[8] Miller N(2014)Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)—10-year follow-up of patients who previously participated in an MPS VI survey study Am J Med Genet A 164 1953-1007

[9] White KK(1996)Mechanisms and management of fatigue in progressive neurological disorders Curr Opin Neurol 9 456-18

[10] Harmatz P(2019)Pain, functional disability, and their Association in Juvenile Fibromyalgia Compared to other pediatric rheumatic diseases Pediatr Rheumatol 17 72-2183