Emma J Footitt
Affiliation: University College London
- Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentrationEmma J Footitt
Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, WC1N 1EH, UK
J Inherit Metab Dis 34:529-38. 2011..Further studies of CSF PLP levels in a wide range of neurological diseases might lead to improved understanding of pathogenesis and possibilities for treatment...
- Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS methodEmma J Footitt
Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
J Inherit Metab Dis 36:139-45. 2013..Such mega doses of B(6) treatment are known to be associated with neurotoxicity. This LC-MS/MS method will be a useful tool for treatment monitoring and may help further our understanding of mechanisms of neurotoxicity in patient groups...
- Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills
1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
Brain 137:1350-60. 2014..32 (close to rs72823592). We believe the reduction in PNPO activity and B6-responsive epilepsy in the patients reported here indicates that it contributes to the pathogenesis of epilepsy. ..
- Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiencyPhilippa B Mills
Clinical and Molecular Genetics Unit, Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, WC1N 1EH, UK
J Inherit Metab Dis 35:1031-6. 2012..This should be taken into account when interpreting the laboratory data. Sulphite was shown to inhibit α-aminoadipic semialdehyde dehydrogenase in vitro...
- Inborn errors of metabolism causing epilepsyShamima Rahman
Clinical and Molecular Genetics and Neurosciences Units, University College London Institute of Child Health, London and Metabolic and Neurosciences Units, Great Ormond Street Hospital for Children NHS Trust, London, UK
Dev Med Child Neurol 55:23-36. 2013..This review attempts to delineate these and to provide a guide to the specific tests that can be used to make the diagnosis of disorders with specific treatment...
- Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)Philippa B Mills
Institute of Child Health, University College London with Great Ormond Street Hospital for Children, National Health Service Trust, London, UK
Brain 133:2148-59. 2010..These findings support the use of biochemical and DNA tests for antiquitin deficiency and a clinical trial of pyridoxine in infants and children with epilepsy across a broad range of clinical scenarios...