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Simon Heales

Showing results (51-60 of 82) with videos related to

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Molecular Genetics and Metabolism|November 23, 2024
The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trialAlex Pinto, Anne Daly, Camille Newby, et al.
Journal of Clinical Medicine|July 11, 2019
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related DiseasesEnrico Bugiardini, Simon Pope, René G Feichtinger, et al.
Movement Disorders Clinical Practice|July 31, 2024
Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual PathologyAinara Salazar-Villacorta, Robert Spaull, Samyami Chowdhury, et al.
Nature Communications|November 25, 2025
Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brainJenny Hällqvist, Christina E Toomey, Rui Pinto, et al.
Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.
Trials|April 28, 2017
Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trialSiobhan Titre-Johnson, Natasha Schoeler, Christin Eltze, et al.
Circulation. Cardiovascular Genetics|October 13, 2010
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiencyLila Mayahi, Lydia Mason, Katherine Bleasdale-Barr, et al.
Analytical Chemistry|November 6, 2015
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VIWendy E Heywood, Stephane Camuzeaux, Ivan Doykov, et al.
JIMD Reports|July 25, 2015
Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type IIIDèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.
Molecular Neurodegeneration|February 25, 2016
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assayWendy E Heywood, Daniela Galimberti, Emily Bliss, et al.
Pageof 9

Showing results (51-60 of 82) with videos related to

Sort By:
Pageof 9
Molecular Genetics and Metabolism|November 23, 2024
The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trialAlex Pinto, Anne Daly, Camille Newby, et al.
Journal of Clinical Medicine|July 11, 2019
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related DiseasesEnrico Bugiardini, Simon Pope, René G Feichtinger, et al.
Movement Disorders Clinical Practice|July 31, 2024
Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual PathologyAinara Salazar-Villacorta, Robert Spaull, Samyami Chowdhury, et al.
Nature Communications|November 25, 2025
Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brainJenny Hällqvist, Christina E Toomey, Rui Pinto, et al.
Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.
Trials|April 28, 2017
Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trialSiobhan Titre-Johnson, Natasha Schoeler, Christin Eltze, et al.
Circulation. Cardiovascular Genetics|October 13, 2010
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiencyLila Mayahi, Lydia Mason, Katherine Bleasdale-Barr, et al.
Analytical Chemistry|November 6, 2015
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VIWendy E Heywood, Stephane Camuzeaux, Ivan Doykov, et al.
JIMD Reports|July 25, 2015
Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type IIIDèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.
Molecular Neurodegeneration|February 25, 2016
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assayWendy E Heywood, Daniela Galimberti, Emily Bliss, et al.
Pageof 9