Emma J. Footitt

London, ENG WC1N3JH, United Kingdom

Last Updated: 09/26/2026

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Found 29 publications

Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1.

Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1.

Journal: Neurology. Genetics
Published: June 04, 2025

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study.

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study.

Journal: Molecular genetics and metabolism
Published: January 29, 2025

Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.

Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.

Journal: Neurology
Published: July 08, 2024

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Journal: Clinical genetics
Published: April 17, 2024

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.

Journal: Journal of inherited metabolic disease
Published: March 20, 2024

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

Journal: Journal of inherited metabolic disease
Published: July 26, 2023

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

Journal: JIMD reports
Published: April 28, 2023

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

Journal: Brain : a journal of neurology
Published: July 15, 2022

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Journal: Nature communications
Published: March 14, 2022

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Journal: Neurology
Published: February 26, 2022

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

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

Journal: The New England journal of medicine
Published: November 10, 2021

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Journal: Molecular genetics and metabolism
Published: September 08, 2021
Showing 1-12 of 29

Last Updated: 09/26/2026