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JIMD Reports|July 3, 2013
Chiari 1 malformation and holocord syringomyelia in hunter syndromeRenzo Manara, Daniela Concolino, Angelica Rampazzo, et al.Biomolecules|March 29, 2023
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction ModelFrancesca D'Avanzo, Alessandra Zanetti, Andrea Dardis, et al.Journal of Child Neurology|August 24, 2012
The role of visual electrophysiology in mucopolysaccharidosesAgnese Suppiej, Angelica Rampazzo, Ambra Cappellari, et al.Orphanet Journal of Rare Diseases|January 8, 2020
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN networkJean-Michel Heard, Charlotte Vrinten, Michael Schlander, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 10, 2009
A 10-year large-scale cystic fibrosis carrier screening in the Italian populationLuigi Picci, Marilena Cameran, Oriana Marangon, et al.American Journal of Medical Genetics. Part A|April 16, 2005
Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriersCarlo Castellani, Luigi Picci, Maurizio Scarpa, et al.European Journal of Human Genetics : EJHG|March 5, 2009
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphismAlessandra Zanetti, Elena Ferraresi, Luigi Picci, et al.International Journal of Molecular Sciences|May 18, 2017
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse ModelMarika Salvalaio, Francesca D'Avanzo, Laura Rigon, et al.JIMD Reports|July 26, 2014
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS LocusAlessandra Zanetti, Rosella Tomanin, Angelica Rampazzo, et al.Biomedical Chromatography : BMC|January 23, 2014
A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disordersAntonina Gucciardi, Elisa Legnini, Iole Maria Di Gangi, et al.Pageof 15