Helen Mundy

Helen Mundy

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Helen Mundy

Helen Mundy

Publications by authors named "Helen Mundy"

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24Publications

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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Safety issues associated with dietary management in patients with hepatic glycogen storage disease.

Mol Genet Metab 2018 09 18;125(1-2):79-85. Epub 2018 Jul 18.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.07.004DOI Listing
September 2018

Reversible Cerebral White Matter Abnormalities in Homocystinuria.

JIMD Rep 2019 6;44:115-119. Epub 2018 Sep 6.

Department of Paediatric Neurosciences, St George's University Hospitals NHS Foundation Trust, London, UK.

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http://link.springer.com/10.1007/8904_2018_135
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http://dx.doi.org/10.1007/8904_2018_135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323022PMC
September 2018

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Invest Ophthalmol Vis Sci 2017 01;58(1):594-603

Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, The University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, United Kingdom 3Manchester Centre for Genomic Medicine, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.16-21026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841568PMC
January 2017

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Am J Hum Genet 2013 Aug 11;93(2):211-23. Epub 2013 Jul 11.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738821PMC
August 2013

Liver transplantation for propionic acidemia in children.

Liver Transpl 2011 Jun;17(6):661-7

Paediatric Liver, Gastrointestinal, and Nutrition Centre, King's College Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/lt.22279DOI Listing
June 2011

Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.

Pediatr Neurol 2010 Nov;43(5):351-4

Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, St Thomas' Hospital, London, UK.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.06.007DOI Listing
November 2010

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.

Neuromuscul Disord 2010 Jun 14;20(6):403-6. Epub 2010 May 14.

Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661000183
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http://dx.doi.org/10.1016/j.nmd.2010.04.003DOI Listing
June 2010

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.

Neuromuscul Disord 2010 Feb 16;20(2):131-5. Epub 2009 Dec 16.

Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2009.10.010DOI Listing
February 2010

The regulation of growth in glycogen storage disease type 1.

Clin Endocrinol (Oxf) 2003 Mar;58(3):332-9

The London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1046/j.1365-2265.2003.01717.xDOI Listing
March 2003

Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III.

Circulation 2003 Feb;107(7):e47

Centre for Advanced Magnetic Resonance in Cardiology, Royal Brompton Hospital, London, UK.

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http://dx.doi.org/10.1161/01.cir.0000050691.73932.cbDOI Listing
February 2003

Dietary control of phenylketonuria.

Lancet 2002 Dec 21-28;360(9350):2076

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http://dx.doi.org/10.1016/S0140-6736(02)11959-3DOI Listing
January 2003

A child presenting with disordered consciousness, hallucinations, screaming episodes and abdominal pain.

Eur J Pediatr 2002 Feb;161(2):127-9

Department of Biochemistry, Endocrinology and Metabolism, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1007/x00431-001-0862-zDOI Listing
February 2002