Concepedia

Emma Footitt

EF

Statistics

Publications

21

Citations

1.3K

H-Index

20

Active since

2010

Affiliations

University College London(Current)

Great Ormond Street Hospital

National Hospital for Neurology and Neurosurgery

Great Ormond Street Hospital for Children NHS Foundation Trust

Amsterdam UMC Location Vrije Universiteit Amsterdam

Emma Footitt is an author at University College London specializing in medicine, neurology, and inherited metabolic disease.

Top concepts

Publications per year

2010–2023

21

Publications

21

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Philippa B. Mills, Emma Footitt, Kevin Mills et al. · Brain · 2010 · 263 citations · Full text

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Philippa B. Mills, Stéphane Camuzeaux, Emma Footitt et al. · Brain · 2014 · 175 citations · Full text

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

Niklas Darín, Emma Reid, Laurence Prunetti et al. · The American Journal of Human Genetics · 2016 · 136 citations · Full text

, , +2

Pyridoxal 5'‐phosphate in cerebrospinal fluid; factors affecting concentration

Emma Footitt, Simon Heales, Philippa B. Mills et al. · Journal of Inherited Metabolic Disease · 2011 · 79 citations

TRNT1 deficiency: clinical, biochemical and molecular genetic features

Yehani Wedatilake, Rojeen Niazi, Elisa Fassone et al. · Orphanet Journal of Rare Diseases · 2016 · 75 citations · Full text

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