Francesca Santus

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

Uma Ramaswami, S. Wendt, Guillem Pintos‐Morell et al. · Acta Paediatrica · 2006 · 111 citations

Pharmacy, Pediatrics, Pharmacology +14

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

Massimiliano Filosto, Mauro Scarpelli, Paola Tonin et al. · Journal of Neurology · 2012 · 62 citations

Medicine, Neurology, Neuroscience +12

Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease

Miriam Rigoldi, Daniela Concolino, Amelia Morrone et al. · Clinical Genetics · 2013 · 55 citations

Life Sciences, Genetics, Molecular Genetics +12

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index

Rossella Parini, Miriam Rigoldi, Francesca Santus et al. · Clinical Genetics · 2008 · 31 citations · Full text

Life Sciences, Pathology, Pharmacotherapy +15

Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome

Francesca Furlan, René Santer, Elisabetta Vismara et al. · Journal of Inherited Metabolic Disease · 2006 · 19 citations

Medicine, Ophthalmology, Ocular Disease +12