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Elisabetta Pasquini

Showing results (21-30 of 33) with videos related to

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Thescientificworldjournal|December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studiesSerena Catarzi, Anna Caciotti, Janita Thusberg, et al.
Orphanet Journal of Rare Diseases|July 17, 2014
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatmentCatia Cavicchi, Maria Donati, Rossella Parini, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 7, 2008
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitroMonica Traverso, Elisabetta Gazzerro, Stefania Assereto, 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.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
Orphanet Journal of Rare Diseases|May 31, 2012
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individualsSarah C Grünert, Martin Stucki, Raphael J Morscher, et al.
Journal of Inherited Metabolic Disease|February 17, 2022
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS methodFlorin Sasarman, Sacha Ferdinandusse, David S Sinasac, et al.
Journal of Inherited Metabolic Disease|December 2, 2016
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyMartina Huemer, Daria Diodato, Bernd Schwahn, et al.
Ebiomedicine|March 30, 2019
A genetic modifier of symptom onset in Pompe diseaseAtze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.
Neuromuscular Disorders : NMD|July 17, 2010
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophyElena Mazzone, Diego Martinelli, Angela Berardinelli, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Thescientificworldjournal|December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studiesSerena Catarzi, Anna Caciotti, Janita Thusberg, et al.
Orphanet Journal of Rare Diseases|July 17, 2014
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatmentCatia Cavicchi, Maria Donati, Rossella Parini, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 7, 2008
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitroMonica Traverso, Elisabetta Gazzerro, Stefania Assereto, 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.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
Orphanet Journal of Rare Diseases|May 31, 2012
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individualsSarah C Grünert, Martin Stucki, Raphael J Morscher, et al.
Journal of Inherited Metabolic Disease|February 17, 2022
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS methodFlorin Sasarman, Sacha Ferdinandusse, David S Sinasac, et al.
Journal of Inherited Metabolic Disease|December 2, 2016
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyMartina Huemer, Daria Diodato, Bernd Schwahn, et al.
Ebiomedicine|March 30, 2019
A genetic modifier of symptom onset in Pompe diseaseAtze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.
Neuromuscular Disorders : NMD|July 17, 2010
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophyElena Mazzone, Diego Martinelli, Angela Berardinelli, et al.
Pageof 4