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Alice Donati

Showing results (61-70 of 117) with videos related to

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Molecular Therapy : the Journal of the American Society of Gene Therapy|January 11, 2007
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe diseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Journal of Neurology|June 20, 2012
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathyMassimiliano Filosto, Mauro Scarpelli, Paola Tonin, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 10, 2017
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe DiseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|May 8, 2019
Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the DiseaseGiorgia Squeri, Laura Passerini, Francesca Ferro, et al.
Pediatric Nephrology (Berlin, Germany)|September 5, 2014
Short-term survival of hyperammonemic neonates treated with dialysisStefano Picca, Carlo Dionisi-Vici, Andrea Bartuli, et al.
BBA Clinical|April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutationRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Molecular Genetics and Metabolism|July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patientsFilippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.
Clinical Chemistry and Laboratory Medicine|April 29, 2021
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patientsSabrina Malvagia, Lorenzo Ferri, Maria Della Bona, et al.
Muscle & Nerve|September 27, 2016
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changesAnna Pichiecchio, Marta Rossi, Claudia Cinnante, et al.
Orphanet Journal of Rare Diseases|October 10, 2021
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseasesAnna Ardissone, Claudio Bruno, Daria Diodato, et al.
Pageof 12

Showing results (61-70 of 117) with videos related to

Sort By:
Pageof 12
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 11, 2007
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe diseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Journal of Neurology|June 20, 2012
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathyMassimiliano Filosto, Mauro Scarpelli, Paola Tonin, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 10, 2017
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe DiseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|May 8, 2019
Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the DiseaseGiorgia Squeri, Laura Passerini, Francesca Ferro, et al.
Pediatric Nephrology (Berlin, Germany)|September 5, 2014
Short-term survival of hyperammonemic neonates treated with dialysisStefano Picca, Carlo Dionisi-Vici, Andrea Bartuli, et al.
BBA Clinical|April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutationRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Molecular Genetics and Metabolism|July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patientsFilippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.
Clinical Chemistry and Laboratory Medicine|April 29, 2021
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patientsSabrina Malvagia, Lorenzo Ferri, Maria Della Bona, et al.
Muscle & Nerve|September 27, 2016
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changesAnna Pichiecchio, Marta Rossi, Claudia Cinnante, et al.
Orphanet Journal of Rare Diseases|October 10, 2021
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseasesAnna Ardissone, Claudio Bruno, Daria Diodato, et al.
Pageof 12