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Maria Alice Donati

Showing results (61-70 of 82) with videos related to

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Frontiers in Pharmacology|June 2, 2022
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort StudyFrancesca Gorini, Michele Santoro, Anna Pierini, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapyGiancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.
Internal and Emergency Medicine|March 7, 2023
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensusMaurizio Scarpa, Antonio Barbato, Annalisa Bisconti, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
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.
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.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
Frontiers in Pharmacology|June 2, 2022
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort StudyFrancesca Gorini, Michele Santoro, Anna Pierini, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapyGiancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.
Internal and Emergency Medicine|March 7, 2023
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensusMaurizio Scarpa, Antonio Barbato, Annalisa Bisconti, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
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.
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.
Pageof 9