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Neuroscience Letters|July 2, 2016
Mitochondrial DNA haplogroups may influence Fabry disease phenotypeC Simoncini, L Chico, D Concolino, et al.Clinical Genetics|January 12, 2010
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiencyV Leuzzi, C A Carducci, C L Carducci, et al.Journal of Biological Regulators and Homeostatic Agents|October 1, 2020
Dilated cardiomyopathy in mucolipidosis type 2E Carboni, S Sestito, M Lucente, et al.Journal of Endocrinological Investigation|June 6, 2009
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescenceS Bertelloni, A Balsamo, L Giordani, et al.AJNR. American Journal of Neuroradiology|October 21, 2017
Redefining the Pulvinar Sign in Fabry DiseaseS Cocozza, C Russo, A Pisani, et al.Journal of Neurology|July 29, 2020
Oxidative stress biomarkers in Fabry disease: is there a room for them?C Simoncini, S Torri, V Montano, et al.Frontiers in Endocrinology|December 9, 2022
Endocrine system involvement in patients with RASopathies: A case seriesM A Siano, R Pivonello, M Salerno, et al.Orphanet Journal of Rare Diseases|October 3, 2021
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunityM A Siano, V Marchetti, S Pagano, et al.Acta Neurologica Scandinavica|January 25, 2018
Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15)S Matricardi, F Darra, A Spalice, et al.Molecular Genetics and Metabolism Reports|July 14, 2017
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative groupD Concolino, L Amico, M D Cappellini, et al.Pageof 6