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Severo Pagliardini

Research Profile

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Francesco Porta; Cristiana Barbera; Pierluigi Calvo; Mirella Filocamo; Susanna Lualdi; Severo Pagliardini; Veronica Pagliardini; Marco Spada
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.
Silvia Paciotti; Severo Pagliardini; Veronica Pagliardini; Silvio Pasqui; Emanuele Persichetti; Camillo Rosano; Bruno Bembi; M Codini; Andrea Dardis; Marta Deganuto; Mirella Filocamo; Anna Rita Menghini; Chiara Balducci; Tommaso Beccari
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.
Julia Kleinert; Peter Kotanko; Marco Spada; Severo Pagliardini; Eduard Paschke; Karl Paul; Till Voigtländer; Manfred Wallner; reinhard kramar; Hans-Krister Stummvoll; Christoph Schwarz; Sabine Horn; Herwig Holzer; Manuela Födinger; Gere Sunder-Plassmann
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.

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All Publications

2013: Francesco Porta; Cristiana Barbera; Pierluigi Calvo; Mirella Filocamo; Susanna Lualdi; Severo Pagliardini; Veronica Pagliardini; Marco Spada
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.
Molecular genetics and metabolism 2013;108(1):106.
2012: Silvia Paciotti; Severo Pagliardini; Veronica Pagliardini; Silvio Pasqui; Emanuele Persichetti; Camillo Rosano; Bruno Bembi; M Codini; Andrea Dardis; Marta Deganuto; Mirella Filocamo; Anna Rita Menghini; Chiara Balducci; Tommaso Beccari
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.
Clinica chimica acta; international journal of clinical chemistry 2012;413(23-24):1827-31.
2009: Julia Kleinert; Peter Kotanko; Marco Spada; Severo Pagliardini; Eduard Paschke; Karl Paul; Till Voigtländer; Manfred Wallner; reinhard kramar; Hans-Krister Stummvoll; Christoph Schwarz; Sabine Horn; Herwig Holzer; Manuela Födinger; Gere Sunder-Plassmann
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.
Transplant international : official journal of the European Society for Organ Transplantation 2009;22(3):287-92.
2008: P L Calvo; Domenico Garozzo; M Baldi; C Barbera; Severo Pagliardini; A Pucci; Luisa Sturiale; T Vinciguerra; J Jaeken
Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.
Journal of inherited metabolic disease 2008;31 Suppl 2():S437-40.
2008: Giovanni Battista Ferrero; Severo Pagliardini; Aleksandar Veljkovic; Francesco Porta; Cristina Bena; Irene Tardivo; Gabriella Restagno; Margherita Silengo; Elisabetta Bignamini
In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis.
Molecular genetics and metabolism 2008;94(1):139.
2006: Marco Spada; Severo Pagliardini; Makiko Yasuda; Turgut Tukel; Geetha Thiagarajan; Hitoshi Sakuraba; Alberto Ponzone; Robert J Desnick
High incidence of later-onset fabry disease revealed by newborn screening.
American journal of human genetics 2006;79(1):31-40.
2006: Claudia Mandato; Lars Brive; Yoshiaki Miura; Joseph Alex Davis; Nicolina Di Cosmo; Stefania Lucariello; Severo Pagliardini; Neungseon Seo; Giancarlo Parenti; Raffaella Vecchione; Hudson H Freeze; Pietro Vajro
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation.
Pediatric research 2006;59(2):293-8.
2005: Emanuela Medda; Antonella Olivieri; Maria Antonietta Stazi; Michele E Grandolfo; Cristina Fazzini; Mariangiola Baserga; Massimo Burroni; Emanuele Cacciari; Francesca Calaciura; Alessandra Cassio; Luca Chiovato; Pietro Costa; Daniela Leonardi; Maria Martucci; Lidia Moschini; Severo Pagliardini; Giuseppe Parlato; Alberto Pignero; Aldo Pinchera; Danielle Sala; Lidia Sava; Vera Stoppioni; Francesco Tancredi; Fabiola Valentini; Riccardo Vigneri; Mariella Sorcini
Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003).
European journal of endocrinology / European Federation of Endocrine Societies 2005;153(6):765-73.
2004: Peter Kotanko; reinhard kramar; Danijela Devrnja; Eduard Paschke; Till Voigtländer; Martin Auinger; Severo Pagliardini; Marco Spada; Klaus Demmelbauer; Matthias Lorenz; Anna-Christine Hauser; Hans-Jörg Kofler; Karl Lhotta; Ulrich Neyer; Wolfgang Pronai; Michael Wallner; Clemens Wieser; Martin Wiesholzer; Herbert Zodl; Manuela Födinger; Gere Sunder-Plassmann
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.
Journal of the American Society of Nephrology : JASN 2004;15(5):1323-9.
2003: Margherita Silengo; Mariella Valenzise; Severo Pagliardini; Marco Spada
Hair changes in congenital disorders of glycosylation (CDG type 1).
European journal of pediatrics 2003;162(2):114-5.