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Philippa B Mills

Showing results (41-50 of 48) with videos related to

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Nature Communications|August 31, 2018
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transferJulien Baruteau, Dany P Perocheau, Joanna Hanley, et al.
Brain : a Journal of Neurology|June 18, 2010
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)Philippa B Mills, Emma J Footitt, Kevin A Mills, et al.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Brain : a Journal of Neurology|March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.
Science Translational Medicine|January 10, 2024
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduriaSonam Gurung, Oskar Vilhelmsson Timmermand, Dany Perocheau, et al.
Annals of Neurology|June 13, 2019
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementationViorica Chelban, Matthew P Wilson, Jodi Warman Chardon, et al.
Journal of Inherited Metabolic Disease|December 4, 2023
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaSonam Gurung, Saketh Karamched, Dany Perocheau, et al.
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
Pageof 5

Showing results (41-50 of 48) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 48 results.
Nature Communications|August 31, 2018
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transferJulien Baruteau, Dany P Perocheau, Joanna Hanley, et al.
Brain : a Journal of Neurology|June 18, 2010
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)Philippa B Mills, Emma J Footitt, Kevin A Mills, et al.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Brain : a Journal of Neurology|March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.
Science Translational Medicine|January 10, 2024
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduriaSonam Gurung, Oskar Vilhelmsson Timmermand, Dany Perocheau, et al.
Annals of Neurology|June 13, 2019
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementationViorica Chelban, Matthew P Wilson, Jodi Warman Chardon, et al.
Journal of Inherited Metabolic Disease|December 4, 2023
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaSonam Gurung, Saketh Karamched, Dany Perocheau, et al.
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
Pageof 5