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Orphanet Journal of Rare Diseases|September 30, 2020
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosisJulia B Hennermann, Nathalie Guffon, Federica Cattaneo, et al.
Journal of Inherited Metabolic Disease|September 12, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase DeficiencyMaurizio Scarpa, George A Diaz, Roberto Giugliani, et al.
Molecular Genetics and Metabolism|June 25, 2016
Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP)Guirish A Solanki, Peter P Sun, Kenneth W Martin, et al.
Molecular Genetics and Metabolism|November 18, 2008
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopyDamien Galanaud, Ayman Tourbah, Stéphane Lehéricy, et al.
Molecular Genetics and Metabolism Reports|February 2, 2026
Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndromeCarolina F M de Souza, Barbara K Burton, Philippe M Campeau, et al.
American Journal of Medical Genetics. Part A|April 26, 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 StudyRoberto Giugliani, Christina Lampe, Nathalie Guffon, et al.
European Journal of Medical Genetics|June 9, 2024
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational studyEugen Mengel, Maurizio Scarpa, Nathalie Guffon, et al.
Molecular Genetics and Metabolism Reports|April 16, 2020
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosisDawn Phillips, Julia B Hennermann, Anna Tylki-Szymanska, et al.
Molecular Genetics and Metabolism|January 17, 2026
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome SurveyBarbara K Burton, Nathalie Guffon, Jane Roberts, et al.
European Journal of Pediatrics|November 27, 2007
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyJ Edmond Wraith, Maurizio Scarpa, Michael Beck, et al.
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