Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey

[1] Montaño AM(2016)Clinical course of sly syndrome (mucopolysaccharidosis type VII) J Med Genet 53 403-418

[2] Lock-Hock N(1973)Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis J Pediatr 82 249-257

[3] Steiner RD(2017)Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis Genet Med 19 983-988

[4] Graham BH(2017)Practical management of behavioral problems in mucopolysaccharidoses disorders Mol Genet Metab 122S 35-40

[5] Szlago M(2013)Newborn screening and diagnosis of mucopolysaccharidoses Mol Genet Metab 110 42-53

[6] Greenstein R(2011)Diagnosis of the mucopolysaccharidoses Rheumatology (Oxford) 50 v41-v48

[7] Sly WS(2015)Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders Prenat Diagn 35 1137-1147

[8] Quinton BA(2018)Clinical presentation and diagnosis of mucopolysaccharidoses Mol Genet Metab 125 4-17

[9] McAlister WH(2012)Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis Prenat Diagn 32 1139-1142

[10] Rimoin DL(1998)Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation Bone Marrow Transplant 21 629-634

[1] Montaño AM(2016)Clinical course of sly syndrome (mucopolysaccharidosis type VII) J Med Genet 53 403-418

[2] Lock-Hock N(1973)Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis J Pediatr 82 249-257

[3] Steiner RD(2017)Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis Genet Med 19 983-988

[4] Graham BH(2017)Practical management of behavioral problems in mucopolysaccharidoses disorders Mol Genet Metab 122S 35-40

[5] Szlago M(2013)Newborn screening and diagnosis of mucopolysaccharidoses Mol Genet Metab 110 42-53

[6] Greenstein R(2011)Diagnosis of the mucopolysaccharidoses Rheumatology (Oxford) 50 v41-v48

[7] Sly WS(2015)Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders Prenat Diagn 35 1137-1147

[8] Quinton BA(2018)Clinical presentation and diagnosis of mucopolysaccharidoses Mol Genet Metab 125 4-17

[9] McAlister WH(2012)Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis Prenat Diagn 32 1139-1142

[10] Rimoin DL(1998)Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation Bone Marrow Transplant 21 629-634