Marco Spada
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino(IT)Bambino Gesù Children's Hospital(IT)Ospedale Regina Margherita(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)Department of Public Health(US)University of Turin(IT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Neonatal Health and Biochemistry, Biochemical and Molecular Research
Most-Cited Works
- → High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*(2006)997 cited
- → Clinical and molecular findings in children with complex I deficiency(2004)260 cited
- → The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts(2019)231 cited
- → European expert consensus statement on therapeutic goals in Fabry disease(2018)210 cited
- → Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia(1994)131 cited
- → Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study(2020)110 cited