Showing results (61-70 of 92) with videos related to
Sort By:
Pageof 10
Orphanet Journal of Rare Diseases|September 18, 2014
Effects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseAnnalisa Sechi, Andrea Dardis, Stefania Zampieri, et al.Journal of Clinical Medicine|October 23, 2021
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD)Andrea Dardis, Eleonora Pavan, Martina Fabris, et al.Journal of Inherited Metabolic Disease|November 17, 2017
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East ItalyAlberto B Burlina, Giulia Polo, Leonardo Salviati, et al.FEBS Letters|June 12, 2025
Genomic modifiers of neurological resilience in a Niemann-Pick C familyMacarena Las Heras, Benjamín Szenfeld, Valeria Olguín, et al.Neurogenetics|January 14, 2020
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann-Pick C diseaseKatarzyna Hetmańczyk-Sawicka, Roksana Iwanicka-Nowicka, Anna Fogtman, et al.Journal of Neurology|December 25, 2014
Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twinsAlberto Benussi, Antonella Alberici, Enrico Premi, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|January 22, 2016
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 MutationsMilena Romanello, Stefania Zampieri, Nadia Bortolotti, 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.Journal of Inherited Metabolic Disease|September 15, 2010
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type IIBruno Bembi, Federica Edith Pisa, Marco Confalonieri, et al.Biochimica Et Biophysica Acta. Molecular Cell Research|March 20, 2021
Expression of the tumor-expressed protein MageB2 enhances rRNA transcriptionMaría Fátima Ladelfa, Leticia Yamila Peche, Gastón Ezequiel Amato, et al.Pageof 10