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American Journal of Medical Genetics. Part A|December 15, 2025
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural VariantGiuseppe Reynolds, Ilaria Carelli, Federico Rondot, et al.
Molecular Genetics and Metabolism|April 10, 2013
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemiaMarco Spada, Francesco Porta, Liliana Vercelli, et al.
Cancers|January 17, 2019
Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann SyndromeAlessandro Mussa, Valentina Pia Ciuffreda, Pina Sauro, et al.
Plos One|June 13, 2015
High Prevalence of Vitamin D Deficiency in Native versus Migrant Mothers and Newborns in the North of Italy: A Call to Act with a Stronger Prevention ProgramFrancesco Cadario, Silvia Savastio, Corrado Magnani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 24, 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 geneSilvia Paciotti, Emanuele Persichetti, Severo Pagliardini, et al.
Acta Diabetologica|May 29, 2015
Vitamin D levels at birth and risk of type 1 diabetes in childhood: a case-control studyFrancesco Cadario, Silvia Savastio, Veronica Pagliardini, et al.
International Journal of Molecular Sciences|May 7, 2025
Identification of Novel Mutations in Patients Affected by Gaucher DiseaseMonia Anania, Miriam Giacomarra, Annalisa D'Errico, et al.
Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.
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