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Author Details

Helen Mundy
Evelina London Children's Hospital
2001
39
19
PMIDPaper TitleJournal TitlePublished Year
36362876Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.Life (Basel)2022
35549996Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.Orphanet J Rare Dis2022
35503103Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.Genet Med2022
35358327Postauthorization safety study of betaine anhydrous.J Inherit Metab Dis2022
32505569Liver histology in children with glycogen storage disorders type VI and IX.Dig Liver Dis2021
33977030The natural history of glycogen storage disease type Ib in England: A multisite survey.JIMD Rep2021
30773687Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.J Inherit Metab Dis2019
30187370Reversible Cerebral White Matter Abnormalities in Homocystinuria.JIMD Rep2019
29394260Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom.PLoS One2018
29878199Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.Hum Mol Genet2018
30037503Safety issues associated with dietary management in patients with hepatic glycogen storage disease.Mol Genet Metab2018
29506905Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.Eur J Paediatr Neurol2018
29506874MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.EBioMedicine2018
28129423Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.Invest Ophthalmol Vis Sci2017
28251416Expanding the phenotype in argininosuccinic aciduria: need for new therapies.J Inherit Metab Dis2017
27312126Solid organ transplantation in primary mitochondrial disease: Proceed with caution.Mol Genet Metab2016
25758258A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.Orphanet J Rare Dis2015
26510951LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Brain2015
24415674Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.Hum Mutat2014
23436702Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.Mov Disord2013
23849775ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.Am J Hum Genet2013
21618686Liver transplantation for propionic acidemia in children.Liver Transpl2011
20018511A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.Neuromuscul Disord2010
20933180Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.Pediatr Neurol2010
20471262The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.Neuromuscul Disord2010
20129935Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.Brain2010
18443712Evaluation of strategies to improve nutrition in people with dementia in an assessment unit.J Nutr Health Aging2008
18392743Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.J Inherit Metab Dis2008
17514432A novel starch for the treatment of glycogen storage diseases.J Inherit Metab Dis2007
16601900The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II.J Inherit Metab Dis2006
15671110Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I.J Clin Endocrinol Metab2005
12600925Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III.Circulation2003
12939429A randomized controlled study of modified cobratoxin in adrenomyeloneuropathy.Neurology2003
12608939The regulation of growth in glycogen storage disease type 1.Clin Endocrinol (Oxf)2003
11954752A child presenting with disordered consciousness, hallucinations, screaming episodes and abdominal pain.Eur J Pediatr2002
12160694Glycogenosis type I and diabetes mellitus: a common mechanism for renal dysfunction?Med Hypotheses2002
12504429Dietary control of phenylketonuria.Lancet2002
11175299Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.Eur J Hum Genet2001
11757588Successful pregnancy outcome in atypical hyperglycinaemia.J Inherit Metab Dis2001
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Collaborators

Andrew A M Morris
Alder Hey Children's NHS Foundation Trust
Co-authored papers 5
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 5
Robert McFarland
Newcastle University
Co-authored papers 4
Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 3
Charu Deshpande
Guy's Hospital
Co-authored papers 3
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 2
Yi Shiau Ng
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
Alexander Broomfield
St Mary's Hospital, Manchester University NHS Foundation Trust
Co-authored papers 2
Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 1
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 1
Thomas Wieland
Co-authored papers 1
Maureen Cleary
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Kathleen A Leppig
Kaiser Permanente Washington
Co-authored papers 1
Patrick J McKiernan
Children's Hospital of Pittsburgh
Co-authored papers 1
Peter Freisinger
Hospital Reutlingen
Co-authored papers 1
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 1
Alison Meynert
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 1
Esther M Maier
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
Co-authored papers 1
Fran??ois Foulquier
CNRS, Universite de Lille
Co-authored papers 1
Mary Kay Koenig
The University of Texas McGovern Medical School
Co-authored papers 1
Julie Hall
Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
Yasushi Okazaki
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
Co-authored papers 1
Andrew M Schaefer
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
Dmitriy Niyazov
Ochsner Clinic Foundation
Co-authored papers 1
Timothy Feyma
200 University Ave E
Co-authored papers 1
Jennifer L Goldstein
University of North Carolina at Chapel Hill
Co-authored papers 1
M Wainwright
Seattle Children's Hospital, University of Washington
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Release 1.2