Severo Pagliardini
University of Turin(IT)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Glycosylation and Glycoproteins Research, Glycogen Storage Diseases and Myoclonus, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*(2006)997 cited
- → Risk factors for congenital hypothyroidism: results of a population case-control study (1997–2003)(2005)129 cited
- → First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene(2012)59 cited
- → Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia(2013)57 cited
- → Cryptogenic Liver Disease in Four Children: A Novel Congenital Disorder of Glycosylation(2006)53 cited
- → Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: A survey clinic-based study(2014)42 cited
- → Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria(2009)39 cited
- → Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance(2019)30 cited
- → Newborn screening for galactosemia: a 30-year single center experience(2015)28 cited
- → Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature(2005)22 cited