Severo Pagliardini
Turin, 10126, Italy
Last Updated: 09/26/2026
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Found 9 publications
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.
Journal: Nutrients
Published: August 12, 2019
Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Journal: Molecular genetics and metabolism reports
Published: July 20, 2017
Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: a survey clinic-based study.
Journal: Journal of the neurological sciences
Published: June 04, 2014
Newborn screening for galactosemia: a 30-year single center experience.
Journal: World journal of pediatrics : WJP
Published: May 01, 2014
α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes.
Journal: Pediatric research
Published: November 16, 2013
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.
Journal: Molecular genetics and metabolism
Published: January 29, 2013
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.
Journal: Molecular genetics and metabolism
Published: November 08, 2012
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.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: May 31, 2012
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Last Updated: 09/26/2026