Rosalia Maria Da Riol

Efficacy and safety of arimoclomol in <scp>Niemann‐Pick</scp> disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

Eugen Mengel, Marc C. Patterson, Rosalia Maria Da Riol et al. · Journal of Inherited Metabolic Disease · 2021 · 99 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +17

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

Annalisa Sechi, Daniela Macor, Serena Valent et al. · Molecular Genetics and Metabolism · 2020 · 60 citations · Full text

Life Sciences, Clinical Sciences, Internal Medicine +11

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Marco Salvatore, Agata Polizzi, Maria Chiara de Stefano et al. · ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics · 2020 · 30 citations · Full text

Life Sciences, Molecular Medicine, Clinical Epidemiology +8

72nd Congress of the Italian Society of Pediatrics

Marco Braghero, Annamaria Staiano, Eleonora Biasin et al. · ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics · 2017 · 29 citations · Full text

Medicine, Nutrition, Pediatrics +17

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

Giovanni Ciana, Andrea Dardis, Eleonora Pavan et al. · Molecular Genetics and Metabolism Reports · 2020 · 20 citations · Full text

Medicine, Neurology, Pharmacology +13