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Frontiers in Medicine|March 19, 2021
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European SurveyKarolina M Stepien, Beata Kieć-Wilk, Christina Lampe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2022
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year resultsMelissa Wasserstein, Robin Lachmann, Carla Hollak, et al.
International Journal of Neonatal Screening|March 26, 2025
International Survey on Phenylketonuria Newborn ScreeningDomen Trampuž, Peter C J I Schielen, Rolf H Zetterström, et al.
Orphanet Journal of Rare Diseases|October 4, 2013
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedureEveline J Langereis, Andrea Borgo, Ellen Crushell, et al.
Journal of Inherited Metabolic Disease|April 28, 2026
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final ResultsMelissa P Wasserstein, Carla E Hollak, Antonio Barbato, et al.
Molecular Genetics and Metabolism|May 27, 2008
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Roberto Giugliani, Ida Vanessa D Schwartz, et al.
Orphanet Journal of Rare Diseases|December 2, 2023
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialMelissa P Wasserstein, Robin Lachmann, Carla Hollak, et al.
Journal of Inherited Metabolic Disease|April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapyRenzo Manara, Elena Priante, Marco Grimaldi, et al.
Journal of Pediatric Rehabilitation Medicine|July 17, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseCeleste Decker, Zi-Fan Yu, Roberto Giugliani, et al.
Internal and Emergency Medicine|March 7, 2023
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensusMaurizio Scarpa, Antonio Barbato, Annalisa Bisconti, et al.
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