Emma Footitt

Emma Footitt

UNVERIFIED PROFILE

Are you Emma Footitt?   Register this Author

Register author
Emma Footitt

Emma Footitt

Publications by authors named "Emma Footitt"

Are you Emma Footitt?   Register this Author

17Publications

693Reads

50Profile Views

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

J Inherit Metab Dis 2017 05 2;40(3):385-394. Epub 2017 Mar 2.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0025-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281PMC
May 2017

Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.

J Pharm Pharmacol 2017 Apr 21;69(4):480-488. Epub 2017 Feb 21.

UCL School of Pharmacy, University College London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jphp.12701DOI Listing
April 2017

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

JIMD Rep 2016 8;27:79-84. Epub 2015 Oct 8.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580730PMC
May 2016

Movement disorders in adult patients with classical galactosemia.

Mov Disord 2013 Jun 11;28(6):804-10. Epub 2013 Feb 11.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25348DOI Listing
June 2013

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.

J Inherit Metab Dis 2013 Jan 11;36(1):139-45. Epub 2012 May 11.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-012-9493-y
Publisher Site
http://dx.doi.org/10.1007/s10545-012-9493-yDOI Listing
January 2013

Inborn errors of metabolism causing epilepsy.

Dev Med Child Neurol 2013 Jan 24;55(1):23-36. Epub 2012 Sep 24.

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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1469-8749.2012.04406.x
Publisher Site
http://dx.doi.org/10.1111/j.1469-8749.2012.04406.xDOI Listing
January 2013

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

J Inherit Metab Dis 2012 Nov 9;35(6):1031-6. Epub 2012 Mar 9.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-012-9466-1DOI Listing
November 2012

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

J Inherit Metab Dis 2011 Apr 9;34(2):529-38. Epub 2011 Feb 9.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-011-9279-7DOI Listing
April 2011