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Journal of Inherited Metabolic Disease|December 15, 2021
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcilNathalie Guffon, Pratima Chowdary, Elisa Leão Teles, et al.
Molecular Genetics and Metabolism Reports|September 14, 2016
Pregnancy in patients with mucopolysaccharidosis: a case seriesFiona J Stewart, Andrew Bentley, Barbara K Burton, et al.
Molecular Genetics and Metabolism|October 7, 2014
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trialChristian J Hendriksz, Roberto Giugliani, Paul Harmatz, et al.
Orphanet Journal of Rare Diseases|August 5, 2024
Acid sphingomyelinase deficiency in France: a retrospective survival studyWladimir Mauhin, Nathalie Guffon, Marie T Vanier, et al.
Orphanet Journal of Rare Diseases|October 31, 2025
Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)Karolina M Stepien, Barbara K Burton, Michael B Bober, et al.
Journal of Medical Genetics|March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry diseaseDominique P Germain, Joel Charrow, Robert J Desnick, et al.
Molecular Genetics and Metabolism|August 26, 2022
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized studyJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism|August 12, 2022
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis IIJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism|September 10, 2022
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfaJohn J Mitchell, Barbara K Burton, Michael B Bober, et al.
Molecular Genetics and Metabolism|March 5, 2013
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjectsPaul Harmatz, Karl Eugen Mengel, Roberto Giugliani, et al.
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