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Orphanet Journal of Rare Diseases|June 15, 2019
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
Orphanet Journal of Rare Diseases|May 31, 2019
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Orphanet Journal of Rare Diseases|December 31, 2015
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disordersLinda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, et al.
The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.
Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.
Frontiers in Public Health|June 26, 2026
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research frameworkFernanda Fortunato, Rita Selvatici, Jan Kirschner, et al.
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