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Philippa B Mills

Showing results (31-40 of 48) with videos related to

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Journal of Inherited Metabolic Disease|March 4, 2017
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delayEmma S Reid, Hywel Williams, Glenn Anderson, et al.
Journal of Inherited Metabolic Disease|March 25, 2014
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acidDongling Dai, Philippa B Mills, Emma Footitt, et al.
Cell|April 22, 2017
Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegansTimothy A Scott, Leonor M Quintaneiro, Povilas Norvaisas, et al.
Brain : a Journal of Neurology|September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypesEmma S Reid, Apostolos Papandreou, Suzanne Drury, et al.
Analytical Chemistry|August 8, 2017
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with EpilepsyMatthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.
American Journal of Human Genetics|August 4, 2016
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in ManKarin Tuschl, Peter T Clayton, Sidney M Gospe, et al.
American Journal of Human Genetics|February 21, 2012
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in manKarin Tuschl, Peter T Clayton, Sidney M Gospe, et al.
EMBO Molecular Medicine|December 28, 2020
Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disordersLeandro R Soria, Sonam Gurung, Giulia De Sabbata, et al.
American Journal of Human Genetics|December 3, 2016
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B<sub>6</sub>-Dependent EpilepsyNiklas Darin, Emma Reid, Laurence Prunetti, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|March 4, 2017
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delayEmma S Reid, Hywel Williams, Glenn Anderson, et al.
Journal of Inherited Metabolic Disease|March 25, 2014
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acidDongling Dai, Philippa B Mills, Emma Footitt, et al.
Cell|April 22, 2017
Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegansTimothy A Scott, Leonor M Quintaneiro, Povilas Norvaisas, et al.
Brain : a Journal of Neurology|September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypesEmma S Reid, Apostolos Papandreou, Suzanne Drury, et al.
Analytical Chemistry|August 8, 2017
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with EpilepsyMatthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.
American Journal of Human Genetics|August 4, 2016
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in ManKarin Tuschl, Peter T Clayton, Sidney M Gospe, et al.
American Journal of Human Genetics|February 21, 2012
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in manKarin Tuschl, Peter T Clayton, Sidney M Gospe, et al.
EMBO Molecular Medicine|December 28, 2020
Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disordersLeandro R Soria, Sonam Gurung, Giulia De Sabbata, et al.
American Journal of Human Genetics|December 3, 2016
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B<sub>6</sub>-Dependent EpilepsyNiklas Darin, Emma Reid, Laurence Prunetti, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Pageof 5