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Epilepsia
|
October 29, 2021
Protective effects of medium chain triglyceride diet in a mouse model of Dravet syndrome
Nikola 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 patients
Aida 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 Europe
Simon 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 sclerosis
Mona 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 review
Araceli 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 Programmes
Alberto 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 mice
Yun 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 hyperglycinemia
Kit-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.
Page
of 9
Search research articles
Search
Showing results (41-50 of 82) with videos related to
Sort By:
Page
of 9
Epilepsia
|
October 29, 2021
Protective effects of medium chain triglyceride diet in a mouse model of Dravet syndrome
Nikola 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 patients
Aida 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 Europe
Simon 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 sclerosis
Mona 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 review
Araceli 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 Programmes
Alberto 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 mice
Yun 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 hyperglycinemia
Kit-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.
Page
of 9