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Developmental Medicine and Child Neurology
|
September 25, 2012
Inborn errors of metabolism causing epilepsy
Shamima Rahman, Emma J Footitt, Sophia Varadkar, 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 method
Emma J Footitt, Peter T Clayton, Kevin Mills, et al.
Molecular Genetics and Metabolism
|
July 18, 2025
Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study
Emma J Footitt, Chloe Millington, Imogen Newsom-Davis, et al.
Journal of Inherited Metabolic Disease
|
February 10, 2011
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration
Emma J Footitt, Simon J Heales, Philippa B Mills, et al.
Journal of Inherited Metabolic Disease
|
March 10, 2012
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
Philippa B Mills, Emma J Footitt, Serkan Ceyhan, et al.
The Journal of Pharmacy and Pharmacology
|
February 22, 2017
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy
Abeer H A Mohamed-Ahmed, Matthew P Wilson, Maedelyn Albuera, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 13, 2013
Movement disorders in adult patients with classical galactosemia
Ignacio Rubio-Agusti, Miryam Carecchio, Kailash P Bhatia, et al.
JIMD Reports
|
October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, 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 Epilepsy
Matthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.
Molecular Genetics and Metabolism
|
March 13, 2022
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
Laura A Tseng, Jose E Abdenur, Ashley Andrews, et al.
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Search research articles
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Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Developmental Medicine and Child Neurology
|
September 25, 2012
Inborn errors of metabolism causing epilepsy
Shamima Rahman, Emma J Footitt, Sophia Varadkar, 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 method
Emma J Footitt, Peter T Clayton, Kevin Mills, et al.
Molecular Genetics and Metabolism
|
July 18, 2025
Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study
Emma J Footitt, Chloe Millington, Imogen Newsom-Davis, et al.
Journal of Inherited Metabolic Disease
|
February 10, 2011
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration
Emma J Footitt, Simon J Heales, Philippa B Mills, et al.
Journal of Inherited Metabolic Disease
|
March 10, 2012
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
Philippa B Mills, Emma J Footitt, Serkan Ceyhan, et al.
The Journal of Pharmacy and Pharmacology
|
February 22, 2017
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy
Abeer H A Mohamed-Ahmed, Matthew P Wilson, Maedelyn Albuera, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 13, 2013
Movement disorders in adult patients with classical galactosemia
Ignacio Rubio-Agusti, Miryam Carecchio, Kailash P Bhatia, et al.
JIMD Reports
|
October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, 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 Epilepsy
Matthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.
Molecular Genetics and Metabolism
|
March 13, 2022
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
Laura A Tseng, Jose E Abdenur, Ashley Andrews, et al.
Page
of 2