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Philippa B Mills

Showing results (1-10 of 48) with videos related to

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International Review of Neurobiology|November 12, 2013
Manganese and the brainKarin Tuschl, Philippa B Mills, Peter T Clayton
Journal of Inherited Metabolic Disease|January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolismMatthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
Journal of Inherited Metabolic Disease|February 1, 2026
RNA-Based Therapies for Inherited Metabolic DisordersReddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, et al.
Glycobiology|March 11, 2003
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not randomKevin Mills, Philippa B Mills, Peter T Clayton, et al.
Developmental Medicine and Child Neurology|April 8, 2010
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiencyBernhard Schmitt, Matthias Baumgartner, Philippa B Mills, et al.
Journal of Inherited Metabolic Disease|April 9, 2008
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorderKarin Tuschl, Philippa B Mills, Howard Parsons, et al.
Journal of Inherited Metabolic Disease|May 12, 2012
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS methodEmma J Footitt, Peter T Clayton, Kevin Mills, et al.
Journal of Inherited Metabolic Disease|February 10, 2011
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentrationEmma J Footitt, Simon J Heales, Philippa B Mills, et al.
Human Molecular Genetics|July 23, 2015
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type IElisa Oppici, Sonia Fargue, Emma S Reid, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2012
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorderMaria Stamelou, Karin Tuschl, W K Chong, et al.
Pageof 5

Showing results (1-10 of 48) with videos related to

Sort By:
Pageof 5
International Review of Neurobiology|November 12, 2013
Manganese and the brainKarin Tuschl, Philippa B Mills, Peter T Clayton
Journal of Inherited Metabolic Disease|January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolismMatthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
Journal of Inherited Metabolic Disease|February 1, 2026
RNA-Based Therapies for Inherited Metabolic DisordersReddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, et al.
Glycobiology|March 11, 2003
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not randomKevin Mills, Philippa B Mills, Peter T Clayton, et al.
Developmental Medicine and Child Neurology|April 8, 2010
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiencyBernhard Schmitt, Matthias Baumgartner, Philippa B Mills, et al.
Journal of Inherited Metabolic Disease|April 9, 2008
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorderKarin Tuschl, Philippa B Mills, Howard Parsons, et al.
Journal of Inherited Metabolic Disease|May 12, 2012
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS methodEmma J Footitt, Peter T Clayton, Kevin Mills, et al.
Journal of Inherited Metabolic Disease|February 10, 2011
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentrationEmma J Footitt, Simon J Heales, Philippa B Mills, et al.
Human Molecular Genetics|July 23, 2015
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type IElisa Oppici, Sonia Fargue, Emma S Reid, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2012
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorderMaria Stamelou, Karin Tuschl, W K Chong, et al.
Pageof 5