Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond

Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions

(2023) Imke A. M. Ditters et al.   BIODRUGS

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

(2023) Imke A. M. Ditters et al.   Orphanet Journal of Rare Diseases

Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience

(2020) Annalisa Sechi et al.   MOLECULAR GENETICS AND METABOLISM

Novel biomarkers for lysosomal storage disorders: Metabolomic and proteomic approaches

(2020) Mohamed A. Elmonem et al.   CLINICA CHIMICA ACTA

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

(2019) Antonio Toscano et al.   Annals of Translational Medicine

Inborn Errors of Metabolism Involving Complex Molecules

(2018) Cinzia Maria Bellettato et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families

(2013) R. Freedman et al.   Journal of Genetic Counseling

Effect of rapid cessation of enzyme replacement therapy: A report of 5 cases and a review of the literature

(2012) Agnieszka Jurecka et al.   MOLECULAR GENETICS AND METABOLISM

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS)

(2011) Barbara K. Burton et al.   MOLECULAR GENETICS AND METABOLISM

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

(2010) Helena Poupětová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Home treatment with Elaprase® and Naglazyme® is safe in patients with mucopolysaccharidoses types II and VI, respectively

(2008) S. Bagewadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE