Author details

Full Name

Emma Footitt

Affiliation

Great Ormond Street Hospital for Children NHS Trust

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36729635	BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.	Brain	2023
37701329	Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.	JIMD Rep	2023
38044746	The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.	J Inherit Metab Dis	2023
35279367	Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.	Mol Genet Metab	2022
36008148	Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.	Neurology	2022
35281661	Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.	JIMD Rep	2022
33200442	Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to Î±-aminoadipic semialdehyde dehydrogenase deficiency.	J Inherit Metab Dis	2021
35281666	Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.	JIMD Rep	2021
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
34056100	Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.	Neurol Genet	2021
31718089	Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.	Metabolites	2019
28782931	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
28255779	Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.	J Inherit Metab Dis	2017
28220480	Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.	J Pharm Pharmacol	2017
26205433	Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.	JIMD Rep	2016
26446091	Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.	JIMD Rep	2016
27912044	Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B<sub>6</sub>-Dependent Epilepsy.	Am J Hum Genet	2016
27370603	TRNT1 deficiency: clinical, biochemical and molecular genetic features.	Orphanet J Rare Dis	2016
26537538	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
24645144	Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.	Brain	2014
24658845	Liver disease in infancy caused by oxysterol 7 Î±-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.	J Inherit Metab Dis	2014
22576361	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
23400815	Movement disorders in adult patients with classical galactosemia.	Mov Disord	2013
22998469	Inborn errors of metabolism causing epilepsy.	Dev Med Child Neurol	2013
22403017	Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.	J Inherit Metab Dis	2012
21305354	Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.	J Inherit Metab Dis	2011
20403077	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
20549361	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
20554659	Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).	Brain	2010
19757145	Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.	J Inherit Metab Dis	2009
18285393	Mitochondrial disorders and general anaesthesia: a case series and review.	Br J Anaesth	2008

1 - 31 of 31

Ariane Soldatos

National Institute of Neurological Disorders and Stroke

Career Start Year 2014

Number of shared co-authors 6

Laila Selim

Cairo University

Career Start Year 2012

Number of shared co-authors 5

Abdellah Tebani

Normandie University UNIROUEN, INSERM U1245

Career Start Year 2011

Number of shared co-authors 0

Janine Reunert

University Children's Hospital Munster

Career Start Year 2009

Number of shared co-authors 0

Amy Goldstein

Children's Hospital of Philadelphia

Career Start Year 2008

Number of shared co-authors 14

Lynne A Wolfe

National Institutes of Health Undiagnosed Diseases Program

Career Start Year 2007

Number of shared co-authors 16

Jon A Gangoiti

University of California

Career Start Year 2006

Number of shared co-authors 0

Tawfeg Ben-Omran

Hamad Medical Corporation.

Career Start Year 2005

Number of shared co-authors 9

Paula Garcia

Hospital Pediatrico de Coimbra

Career Start Year 2004

Number of shared co-authors 5

Sumit Parikh

Center for Pediatric Neurosciences, Cleveland Clinic

Career Start Year 2004

Number of shared co-authors 15

Miao He

Children's Hospital of Philadelphia

Career Start Year 2003

Number of shared co-authors 4

Helen Mundy

Evelina London Children's Hospital

Career Start Year 2001

Number of shared co-authors 16

Mary Kay Koenig

The University of Texas McGovern Medical School

Career Start Year 1999

Number of shared co-authors 9

Fernando Scaglia

Baylor College of Medicine

Career Start Year 1998

Number of shared co-authors 12

Johannes A Mayr

University Children's Hospital, Paracelsus Medical University

Career Start Year 1996

Number of shared co-authors 17

Esther M Maier

Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University

Career Start Year 1996

Number of shared co-authors 2

Jean-Fran??ois Benoist

Hopital Universitaire Necker-Enfants Malades, Assistance Publique - Hopitaux de Paris

Career Start Year 1994

Number of shared co-authors 2

Annette Feigenbaum

Rady Children's Hospital and The University of California

Career Start Year 1990

Number of shared co-authors 11

Dina J Zand

Center for Drug Evaluation and Research

Career Start Year 1989

Number of shared co-authors 2

Gregory M Enns

Lucile Packard Children's Hospital and Stanford University

Career Start Year 1988

Number of shared co-authors 14

Thorsten Marquardt

University Children's Hospital Munster

Career Start Year 1987

Number of shared co-authors 2

Robert K Naviaux

University of California, San Diego School of Medicine

Career Start Year 1986

Number of shared co-authors 0

Tina M Cowan

Clinical Biochemical Genetics Laboratory

Career Start Year 1984

Number of shared co-authors 6

Irenaeus F M de Coo

Unit Clinical Genomics, Maastricht University

Career Start Year 1982

Number of shared co-authors 15

Richard Haas

University of California

Career Start Year 1981

Number of shared co-authors 7

Russell P Saneto

4Center for Integrated Brain Research, Seattle Children's Hospital

Career Start Year 1979

Number of shared co-authors 12

Bruce A Barshop

University of California San Diego

Career Start Year 1975

Number of shared co-authors 3

David M Koeller

Oregon Health & Science University

Career Start Year 1970

Number of shared co-authors 5

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Career Start Year 1969

Number of shared co-authors 22

William L Nyhan

University of California

Career Start Year 1952

Number of shared co-authors 1

row(s) 1 - 30 of 30

Maureen Cleary

Great Ormond Street Hospital for Children NHS Trust

Co-authored papers 9

Stephanie Grunewald

Great Ormond Street Hospital for Children NHS Trust

Co-authored papers 8

Shamima Rahman

UCL Great Ormond Street Institute of Child Health

Co-authored papers 5

Hywel J Williams

Cardiff University

Co-authored papers 3

Johan L K Van Hove

Section of Clinical Genetics and Metabolism, University of Colorado

Co-authored papers 2

Lara Abulhoul

Great Ormond Street Hospital for Children NHS Foundation Trust

Co-authored papers 2

Richard H Scott

Great Ormond Street Hospital

Co-authored papers 2

Philip Twiss

Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Rita Horvath

School of Clinical Medicine, University of Cambridge

Co-authored papers 1

Janice Yip

Co-authored papers 1

Eleanor Dewhurst

University of Cambridge

Co-authored papers 1

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Co-authored papers 1