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Muscle & Nerve|January 28, 2003
Severe prognosis in a large family with hypokalemic periodic paralysisAnna Caciotti, Amelia Morrone, Raffaele Domenici, et al.Frontiers in Pediatrics|July 25, 2022
Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE VariantLuca Filippi, Sara Tamagnini, Francesca Lorenzoni, et al.Human Genetics|March 20, 2003
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patientAnna Caciotti, Tiziana Bardelli, John Cunningham, et al.Molecular Therapy. Nucleic Acids|October 26, 2016
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic MutationsLorenzo Ferri, Giuseppina Covello, Anna Caciotti, et al.European Journal of Gastroenterology & Hepatology|January 12, 2008
Different genotypes in a large Italian family with recurrent hereditary fructose intoleranceAnna Caciotti, Maria Alice Donati, Andrea Adami, et al.Journal of Neurology|November 2, 2018
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing EnhancerRodolfo Tonin, Serena Catarzi, Anna Caciotti, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 24, 2008
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patientAnna Caciotti, Maria Alice Donati, Alessandra d'Azzo, et al.Molecular Genetics and Metabolism Reports|December 14, 2020
High frequency of biotinidase deficiency in Italian population identified by newborn screeningSilvia Funghini, Rodolfo Tonin, Sabrina Malvagia, et al.Molecular Genetics and Metabolism|April 28, 2004
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptorSabrina Malvagia, Amelia Morrone, Anna Caciotti, et al.The American Journal of Pathology|November 30, 2005
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patientsAnna Caciotti, Maria Alice Donati, Tiziana Bardelli, et al.Pageof 4