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Alice Donati

Showing results (91-100 of 117) with videos related to

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Orphanet Journal of Rare Diseases|November 1, 2024
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, et al.
European Journal of Pediatrics|April 18, 2024
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?Marika Pane, Giulia Stanca, Chiara Ticci, et al.
Orphanet Journal of Rare Diseases|April 1, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational studyVassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, et al.
Journal of Medical Genetics|November 22, 2022
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosisEmanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophyClaudia Brogna, Giorgia Coratti, Rachele Rossi, et al.
Journal of Neurology|December 31, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Advances in Therapy|March 18, 2019
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study GroupMassimiliano Filosto, Stefano Cotti Piccinelli, Sabrina Ravaglia, et al.
Eclinicalmedicine|May 17, 2023
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesMarika Pane, Beatrice Berti, Anna Capasso, et al.
Nature Communications|June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencingLaura S Kremer, Daniel M Bader, Christian Mertes, et al.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Pageof 12

Showing results (91-100 of 117) with videos related to

Sort By:
Pageof 12
Orphanet Journal of Rare Diseases|November 1, 2024
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, et al.
European Journal of Pediatrics|April 18, 2024
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?Marika Pane, Giulia Stanca, Chiara Ticci, et al.
Orphanet Journal of Rare Diseases|April 1, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational studyVassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, et al.
Journal of Medical Genetics|November 22, 2022
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosisEmanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophyClaudia Brogna, Giorgia Coratti, Rachele Rossi, et al.
Journal of Neurology|December 31, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Advances in Therapy|March 18, 2019
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study GroupMassimiliano Filosto, Stefano Cotti Piccinelli, Sabrina Ravaglia, et al.
Eclinicalmedicine|May 17, 2023
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesMarika Pane, Beatrice Berti, Anna Capasso, et al.
Nature Communications|June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencingLaura S Kremer, Daniel M Bader, Christian Mertes, et al.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Pageof 12