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Simon Heales

Showing results (41-50 of 82) with videos related to

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Epilepsia|October 29, 2021
Protective effects of medium chain triglyceride diet in a mouse model of Dravet syndromeNikola Jancovski, Tomas Baldwin, Michael Orford, et al.
Molecular Genetics and Metabolism|February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patientsAida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.
International Journal of Neonatal Screening|February 22, 2023
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal Screen.</i> 2022, <i>8</i>, 20"Simon A Jones, David Cheillan, Anupam Chakrapani, et al.
International Journal of Neonatal Screening|March 24, 2022
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across EuropeSimon A Jones, David Cheillan, Anupam Chakrapani, et al.
Scientific Reports|September 15, 2016
Mitochondrial dysfunction is an important cause of neurological deficits in an inflammatory model of multiple sclerosisMona Sadeghian, Vincenzo Mastrolia, Ali Rezaei Haddad, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 15, 2010
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature reviewAraceli Alonso-Canovas, Petra Katschnig, Arianna Tucci, et al.
International Journal of Neonatal Screening|April 25, 2022
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening ProgrammesAlberto Burlina, Simon A Jones, Anupam Chakrapani, et al.
Nature Communications|March 5, 2015
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in miceYun Jin Pai, Kit-Yi Leung, Dawn Savery, et al.
Journal of Inherited Metabolic Disease|August 4, 2020
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemiaKit-Yi Leung, Sandra C P De Castro, Chloe Santos, et al.
Molecular Genetics and Metabolism|March 18, 2025
Corrigendum to "The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial" [Molecular Genetics and Metabolism Volume 143, Issue 4, December 2024, 108607]Alex Pinto, Anne Daly, Camille Newby, et al.
Pageof 9

Showing results (41-50 of 82) with videos related to

Sort By:
Pageof 9
Epilepsia|October 29, 2021
Protective effects of medium chain triglyceride diet in a mouse model of Dravet syndromeNikola Jancovski, Tomas Baldwin, Michael Orford, et al.
Molecular Genetics and Metabolism|February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patientsAida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.
International Journal of Neonatal Screening|February 22, 2023
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal Screen.</i> 2022, <i>8</i>, 20"Simon A Jones, David Cheillan, Anupam Chakrapani, et al.
International Journal of Neonatal Screening|March 24, 2022
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across EuropeSimon A Jones, David Cheillan, Anupam Chakrapani, et al.
Scientific Reports|September 15, 2016
Mitochondrial dysfunction is an important cause of neurological deficits in an inflammatory model of multiple sclerosisMona Sadeghian, Vincenzo Mastrolia, Ali Rezaei Haddad, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 15, 2010
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature reviewAraceli Alonso-Canovas, Petra Katschnig, Arianna Tucci, et al.
International Journal of Neonatal Screening|April 25, 2022
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening ProgrammesAlberto Burlina, Simon A Jones, Anupam Chakrapani, et al.
Nature Communications|March 5, 2015
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in miceYun Jin Pai, Kit-Yi Leung, Dawn Savery, et al.
Journal of Inherited Metabolic Disease|August 4, 2020
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemiaKit-Yi Leung, Sandra C P De Castro, Chloe Santos, et al.
Molecular Genetics and Metabolism|March 18, 2025
Corrigendum to "The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial" [Molecular Genetics and Metabolism Volume 143, Issue 4, December 2024, 108607]Alex Pinto, Anne Daly, Camille Newby, et al.
Pageof 9