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Severo Pagliardini

University of Turin

18

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156

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Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

2019 Nutrients
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Neonatal screening for biotinidase deficiency: A 30-year single center experience

2017 Molecular genetics and metabolism reports
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Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.

2013 Molecular Genetics and Metabolism
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Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

2013 Molecular Genetics and Metabolism
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Lysosomal enzyme activities in phenylketonuria

2011 Molecular Genetics and Metabolism
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In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis.

2008 Molecular Genetics and Metabolism
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An adult patient with a 21-year-history of an unexplained increase in serum transaminases: A novel congenital glycosylation disorder CDG-IIx

2007 Digestive and Liver Disease
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38 Reduction of activity of Arylsulfatasi B in patient with Cystic Fibrosis

2007 Journal of Cystic Fibrosis
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Fattori di rischio dell'ipotiroidismo congenito (IC). Risultati di uno studio caso-controllo realizzato in Italia

2005
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Erratum: Results of a nationwide screening for Anderson-Fabry disease among dialysis patients (Journal of the American Society of Nephrology (August 2004) 15 (1323-1329))

2004 Journal of The American Society of Nephrology
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Citations (3)