共 64 条
[1]
Hendriksz CJ(2013)Review of clinical presentation and diagnosis of Mucopolysaccharidosis IVA Mol Genet Metab 110 54-64
[2]
Harmatz P(1997)Incidence of the mucopolysaccharidoses in Northern Ireland Hum Genet 101 355-358
[3]
Beck M(2003)Incidence of the mucopolysaccharidoses in Western Australia Am J Med Genet A 123A 310-313
[4]
Jones S(2013)The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects Mol Genet Metab 109 54-61
[5]
Wood T(2010)Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice PLoS One 5 e12194-117
[6]
Lachman R(2012)Long term outcomes of a phase 1/2, multicenter, open-label, dose-escalation study to evaluate the safety, tolerability, and efficacy of BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A syndrome) Mol Genet Metab 105 S35-174
[7]
Gravance CG(2002)ATS statement: guidelines for the six-minute walk test Am J Respir Crit Care Med 166 111-e689
[8]
Orii T(2007)International Morquio A registry: clinical manifestation and natural course of Morquio A disease J Inherit Metab Dis 30 165-232
[9]
Tomatsu S(2005)Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux–Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human Pediatrics 115 e681-undefined
[10]
Nelson J(1994)-acetylgalactosamine 4-sulfatase Protein Expr Purif. 5 225-undefined