Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedureMinke H. de Ru, Frits A. Wijburg, Jaap Jan Boelens et al.|Orphanet Journal of Rare Diseases|2011Cited by 233
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa, J. E. Wraith, Gunilla Malm et al.|Orphanet Journal of Rare Diseases|2011Cited by 231
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled studyChristian J. Hendriksz, Wolfgang Dummer, Peter Slasor et al.|Journal of Inherited Metabolic Disease|2014Cited by 211
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Robert W. Taylor, Charu Deshpande et al.|The American Journal of Human Genetics|2016Cited by 129
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Maurizio Scarpa, Paul Harmatz et al.|Orphanet Journal of Rare Diseases|2019Cited by 114