Severo Pagliardini

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 988 citations · Full text

Mendelian Disorder, Pediatrics, Prenatal Diagnosis +4

Risk factors for congenital hypothyroidism: results of a population case-control study (1997–2003)

Emanuela Medda, Antonella Olivieri, Maria Antonietta Stazi et al. · European Journal of Endocrinology · 2005 · 129 citations

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

Silvia Paciotti, Emanuele Persichetti, Severo Pagliardini et al. · Clinica Chimica Acta · 2012 · 58 citations

Genetic Testing, Newborn Screening, Italian Region +12

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia

Marco Spada, Francesco Porta, Liliana Vercelli et al. · Molecular Genetics and Metabolism · 2013 · 57 citations

Later-onset Pompe, Clinical Epidemiology, Hematology +2

Cryptogenic Liver Disease in Four Children: A Novel Congenital Disorder of Glycosylation

Claudia Mandato, Lena Brive, Yoshiaki Miura et al. · Pediatric Research · 2006 · 53 citations · Full text

Hepatology, Cryptogenic Liver Disease, Liver Physiology +7