Доктор Emma Footitt

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR 2nd, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MC, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C; International PDE Consortium.Neurology. 2022 Aug 25;99(23):e2627-36. doi: 10.1212/WNL.0000000000201222

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM.Mol Genet Metab. 2022 Apr;135(4):350-356. doi: 10.1016/j.ymgme.2022.02.005. Epub 2022 Feb 17.PMID: 35279367

Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790.
100,000

Patrick Forny, Emma Footitt, James E Davison, Amanda Lam, Cathy E Woodward, Spyros Batzios, Sanjay Bhate, Anupam Chakrapani, Maureen Cleary, Paul Gissen, Stephanie Grunewald, Jane A Hurst, Richard Scott, Simon Heales, Thomas S Jacques, Thomas Cullup, Shamima Rahman. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era
Neurol Genet. 2021 May 25;7(3):e597. doi: 10.1212/NXG.0000000000000597. eCollection 2021 Jun.

Curtis R Coughlin 2nd, Laura A Tseng, Jose E Abdenur, Catherine Ashmore, François Boemer, Levinus A Bok, Monica Boyer , Daniela Buhas, Peter T Clayton, Anibh Das, Hanka Dekker, Athanasios Evangeliou, François Feillet , Emma J Footitt, Sidney M Gospe Jr , Hans Hartmann , Majdi Kara , Erle Kristensen , Joy Lee , Rina Lilje, Nicola Longo, Roelineke J Lunsing , Philippa Mills, Maria T Papadopoulou , Phillip L Pearl, Flavia Piazzon , Barbara Plecko, Arushi G Saini, Saikat Santra, Damayanti R Sjarif, Sylvia Stockler-Ipsiroglu, Pasquale Striano , Johan L K Van Hove 1, Nanda M Verhoeven-Duif, Frits A Wijburg, Sameer M Zuberi , Clara D M van Karnebeek. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1.

Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA,Gissen P, Clayton PT, Mills PB. 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. Anal Chem. 2017 Sep 5;89(17):8892-8900
Reid ES, Williams H, Anderson G, Benatti M, Chong K, James C, Ocaka L; GOSgene, Hemingway C, Little D, Brown R, Parker A, Holden S, Footitt E, Rahman S, Gissen P, Mills PB, Clayton PT. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. J Inherit Metab Dis. 2017 May;40(3):385-394. doi: 10.1007/s10545-017-0025-7. Epub 2017 Mar 2

Mohamed-Ahmed AH, Wilson MP, Albuera M, Chen T, Mills PB, Footitt EJ, Clayton PT, Tuleu C. Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy. J Pharm Pharmacol. 2017 Apr;69(4):480-488. doi: 10.1111/jphp.12701. Epub 2017 Feb 21

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337.

Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S. TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet J Rare Dis. 2016 Jul 2;11(1):90. doi: 10.1186/s13023-016-0477-0
Heywood WE, Camuzeaux S, Doykov I, Patel N, Preece RL, Footitt E, Cleary M, Clayton P, Grunewald S, Abulhoul L, Chakrapani A, Sebire NJ, Hindmarsh P, de Koning TJ, Heales S, Burke D, Gissen P, Mills K. Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI. Anal Chem. 2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20

Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6. JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 8

Yubero D, Montero R, O'Callaghan M, Pineda M, Meavilla S, Delgadillo V, Sierra C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S, Artuch R. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III. JIMD Rep. 2016;25:1-7. Epub 2015 Jul 24.

Dai D, Mills PB, Footitt E, Gissen P, McClean P, Stahlschmidt J, Coupry I, Lavie J, Mochel F, Goizet C, Mizuochi T, Kimura A, Nittono H, Schwarz K, Crick PJ, Wang Y, Griffiths WJ, Clayton PT. Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid. J Inherit Metab Dis. 2014 Sep;37(5):851-61

Philippa B Mills, Stephane Camuzeaux, Emma J Footitt, Kevin A Mills, Paul Gissen, Laura Fisher, Krishna B Da, Sophia M Varadkar, Robert McWilliam, Tommy Stödberg, Barbara Plecko, Matthias R Baumgartner, Oliver Maier, Sophie Calvert, Kate Riney, Nicole I Wolf, John H Livingston, Chantal Morel, Joe TR Clarke, François Feillet, Francesco Raimondi, Ennio Del Giudice, Peter T Clayton. Epilepsy due to PNPO Deficiency - a Phenotype influenced by Genotype and Environmental Factors. Brain. 2014 May;137(Pt 5):1350-60

Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E. Movement disorders in adult patients with classical galactosemia. Mov Disord. 2013 Jun;28(6):804-10.

Rahman S, Footitt EJ, Varadkar S, Clayton PT. Inborn errors of metabolism causing epilepsy. Dev Med Child Neurol. 2013 Jan;55(1):23-36.

Footitt EJ, Clayton PT, Mills K, Heales SJ, Neergheen V, Oppenheim M, Mills PB. 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;36(1):139-45.

Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. J Inherit Metab Dis. 2012 Nov;35(6):1031-6.

Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT. Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration. J Inherit Metab Dis. 2011 Apr;34(2):529-38.

Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010 Jul;133(Pt 7):2148-59.

Footitt EJ, Stafford J, Dixon M, Burch M, Jakobs C, Salomons GS, Cleary MA. Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S253-6.

Allen GF, Neergheen V, Oppenheim M, Fitzgerald JC, Footitt EJ, Hyland K, Clayton PT, Land JM, Heales SJ. Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states. J Neurochem. 2010 Jul;114(1):87-96.

Footitt EJ, Karimova A, Burch M, Yayeh T, Dupré T, Vuillaumier-Barrot S, Chantret I, Moore SE, Seta N, Grunewald S. Cardiomyopathy in the congenital disorders of glycosylation (CDG):
a case of late presentation and literature review. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S313-9.

Footitt EJ, Sinha MD, Raiman JA, Dhawan A, Moganasundram S, Champion MP. Mitochondrial disorders and general anaesthesia: a case series and review. Br J Anaesth. 2008 Apr;100(4):436-41.