Publications by authors named "Emma Footitt"

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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, Philippa Mills, Youssef Khalil

Mol Genet Metab· August 2025

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Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.
Youssef Khalil, Emma Footitt, Reddy Vootukuri, Michael F Wempe, Curtis R Coughlin

J Inherit Metab Dis· January 2025

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The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Sonam Gurung, Saketh Karamched, Dany Perocheau, Kiran K Seunarine, Tom Baldwin, Emma Footitt

J Inherit Metab Dis· November 2024

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Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
Siying Lin, Anthony G Robson, Dorothy A Thompson, Karolina M Stepien, Robin Lachmann, Emma Footitt

Clin Genet· October 2024

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Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.
Robert Spaull, Audrey K Soo, Spyros Batzios, Emma Footitt, Rebecca Whiteley

Neurology· August 2024

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Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Emma Footitt

JIMD Rep· September 2023

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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Trine Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Emma Footitt

Brain· July 2023

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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Curtis R Coughlin, Laura A Tseng, Levinus A Bok, Hans Hartmann, Emma Footitt

Neurology· December 2022

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
William L Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Emma Footitt

Nat Commun· November 2022

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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Laura A Tseng, Jose E Abdenur, Ashley Andrews, Verena G Aziz, Levinus A Bok, Emma J Footitt

Mol Genet Metab· April 2022

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Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.
Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Emma Footitt

JIMD Rep· March 2022

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Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.
Nandaki Keshavan, Michelle Wood, Lucy M Alderson, Mario Cortina-Borja, Rachel Skeath, Emma Footitt

JIMD Rep· March 2022

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

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Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Patrick Forny, Emma Footitt, James E Davison, Amanda Lam, Cathy E Woodward

Neurol Genet· June 2021

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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, Catherine Ashmore, François Boemer, Emma J Footitt

J Inherit Metab Dis· January 2021

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Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.
Julien Baruteau, Youssef Khalil, Stephanie Grunewald, Marta Zancolli, Anupam Chakrapani, Emma Footitt

Metabolites· November 2019

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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, Mari-Liis Uudelepp, Ronit Pressler

Anal Chem· September 2017

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Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
Emma S Reid, Hywel Williams, Glenn Anderson, Malika Benatti, Kling Chong, Emma Footitt

J Inherit Metab Dis· May 2017

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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, Ting Chen, Philippa B Mills, Emma J Footitt

J Pharm Pharmacol· April 2017

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B-Dependent Epilepsy.
Niklas Darin, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A Husain, Emma Footitt

Am J Hum Genet· December 2016

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TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A Powell, Sarah Pearce, Emma Footitt

Orphanet J Rare Dis· July 2016

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Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.
Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, Chela James, Louise Ocaka, Emma J Footitt

JIMD Rep· May 2016

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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.
Wendy E Heywood, Stephane Camuzeaux, Ivan Doykov, Nina Patel, Rhian-Lauren Preece, Emma Footitt

Anal Chem· December 2015

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Coenzyme Q and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.
Dèlia Yubero, Raquel Montero, Mar O'Callaghan, Mercè Pineda, Silvia Meavilla, Emma Footitt

JIMD Rep· July 2015

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Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
Dongling Dai, Philippa B Mills, Emma Footitt, Paul Gissen, Patricia McClean

J Inherit Metab Dis· September 2014

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