Peter Clayton

Peter Clayton

UNVERIFIED PROFILE

Are you Peter Clayton?   Register this Author

Register author
Peter Clayton

Peter Clayton

Publications by authors named "Peter Clayton"

Are you Peter Clayton?   Register this Author

98Publications

3413Reads

8Profile Views

The effectiveness of correcting abnormal metabolic profiles.

J Inherit Metab Dis 2020 Jan 17;43(1):2-13. Epub 2019 Jul 17.

UCL Great Ormond Street Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12139DOI Listing
January 2020

Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.

J Med Genet 2020 01 13;57(1):38-47. Epub 2019 Sep 13.

Centre for Inborn Errors of Metabolism, UCL Institute of Child Health Library, London, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2019-106030DOI Listing
January 2020

OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea.

Hepatology 2019 Dec 21. Epub 2019 Dec 21.

Department of Internal Medicine, Section of Digestive Diseases, Yale University School of Medicine, New Haven, CT.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hep.31087DOI Listing
December 2019

Disorders affecting vitamin B metabolism.

J Inherit Metab Dis 2019 Jul 20;42(4):629-646. Epub 2019 Mar 20.

Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jimd.12060
Publisher Site
http://dx.doi.org/10.1002/jimd.12060DOI Listing
July 2019

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.

Clin Chim Acta 2019 Jul 12;494:58-63. Epub 2019 Mar 12.

Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; Faculty of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2019.03.1610DOI Listing
July 2019

The in vitro functional analysis of single-nucleotide polymorphisms associated with growth hormone (GH) response in children with GH deficiency.

Pharmacogenomics J 2019 04 1;19(2):200-210. Epub 2018 Jun 1.

Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41397-018-0026-4DOI Listing
April 2019

Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes.

Methods Mol Biol 2019 ;1994:141-147

Great Ormond Street Institute of Child Health, University College London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-4939-9477-9_12DOI Listing
January 2019

Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation.

Methods Mol Biol 2019 ;1994:149-156

Great Ormond Street Institute of Child Health, University College London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-4939-9477-9_13DOI Listing
January 2019

The growth of assisted reproductive treatment-conceived children from birth to 5 years: a national cohort study.

BMC Med 2018 11 28;16(1):224. Epub 2018 Nov 28.

Maternal and Fetal Health Research Centre, University of Manchester, Manchester Academic Health Sciences Centre, Oxford Road, Manchester, M13 9PL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12916-018-1203-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260690PMC
November 2018

Retrospective review of Synacthen testing in infants.

Arch Dis Child 2018 10 12;103(10):984-986. Epub 2018 Jan 12.

Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2017-313819DOI Listing
October 2018

A genetic approach to evaluation of short stature of undetermined cause.

Lancet Diabetes Endocrinol 2018 07 1;6(7):564-574. Epub 2018 Feb 1.

Diabetes and Endocrinology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2213-8587(18)30034-2DOI Listing
July 2018

Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.

Eur J Endocrinol 2018 May 2;178(5):481-489. Epub 2018 Mar 2.

Centre for EndocrinologyWilliam Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-18-0042DOI Listing
May 2018

Transcriptomics and machine learning predict diagnosis and severity of growth hormone deficiency.

JCI Insight 2018 04 5;3(7). Epub 2018 Apr 5.

Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester and Manchester Academic Health Science Centre, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/jci.insight.93247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928867PMC
April 2018

Ghrelin and Growth.

Endocr Dev 2017 15;32:74-86. Epub 2017 Aug 15.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000475732DOI Listing
February 2018

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

Inherited disorders of transition metal metabolism: an update.

Authors:
Peter T Clayton

J Inherit Metab Dis 2017 07 16;40(4):519-529. Epub 2017 Mar 16.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0030-xDOI Listing
July 2017

Vps33b is crucial for structural and functional hepatocyte polarity.

J Hepatol 2017 05 9;66(5):1001-1011. Epub 2017 Jan 9.

UCL Institute of Child Health, University College London, London WC1N 1EH, UK; MRC Laboratory for Molecular Cell Biology, University College London, London WC1E 6BT, UK; Inherited Metabolic Disease Unit, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jhep.2017.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387182PMC
May 2017

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

J Inherit Metab Dis 2017 05 2;40(3):385-394. Epub 2017 Mar 2.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0025-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281PMC
May 2017

Growth Hormone Deficiency in Prepubertal Children: Predictive Markers of Cardiovascular Disease.

Horm Res Paediatr 2016 10;85(6):363-71. Epub 2016 Mar 10.

Department of Paediatrics, University of Chieti, Chieti, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000444143DOI Listing
April 2017

Social, educational and vocational outcomes in patients with childhood-onset and young-adult-onset growth hormone deficiency.

Clin Endocrinol (Oxf) 2017 Apr 3;86(4):526-533. Epub 2017 Feb 3.

Department of Endocrinology, Queen Elizabeth Hospital Birmingham, Birmingham, UK.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/cen.13291
Publisher Site
http://dx.doi.org/10.1111/cen.13291DOI Listing
April 2017

Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.

J Pharm Pharmacol 2017 Apr 21;69(4):480-488. Epub 2017 Feb 21.

UCL School of Pharmacy, University College London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jphp.12701DOI Listing
April 2017

Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study.

Eur J Endocrinol 2016 Dec 20;175(6):633-643. Epub 2016 Sep 20.

Faculty of BiologyMedicine and Health, University of Manchester and Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-16-0357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097129PMC
December 2016

Assessing the population impact of low rates of vitamin D supplementation on type 1 diabetes using a new statistical method.

JRSM Open 2016 Nov 1;7(11):2054270416653522. Epub 2016 Nov 1.

The University of Manchester, Manchester Academic Health Science Centre, Department of Paediatric Endocrinology, Central Manchester University Hospitals NHS Trust, Oxford Road, Manchester M13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2054270416653522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117162PMC
November 2016

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Proc Natl Acad Sci U S A 2016 10 19;113(40):11289-11293. Epub 2016 Sep 19.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06517; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06517; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06517; Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06517; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1613228113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056113PMC
October 2016

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.

Mol Genet Metab Rep 2016 Jun 17;7:55-62. Epub 2016 Apr 17.

Centre for Inborn Errors of Metabolism, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK; Centre for Translational Omics, UCL Institute of Child Health & Great Ormond Street Hospital NHS Foundation Trust, London WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2016.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834675PMC
June 2016

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

JIMD Rep 2016 8;27:79-84. Epub 2015 Oct 8.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580730PMC
May 2016

RARS2 mutations in a sibship with infantile spasms.

Epilepsia 2016 May 8;57(5):e97-e102. Epub 2016 Apr 8.

Molecular Neurosciences, Developmental Neurosciences Programme, UCL-Institute of Child Health, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.13358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864753PMC
May 2016

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(15)00509-1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500509
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746363PMC
February 2016

Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism.

Front Endocrinol (Lausanne) 2016 9;7. Epub 2016 Feb 9.

Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK; Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2016.00008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747152PMC
February 2016

GH deficiency status combined with GH receptor polymorphism affects response to GH in children.

Eur J Endocrinol 2015 Dec 4;173(6):777-89. Epub 2015 Sep 4.

Merck Serono SAGeneva, SwitzerlandDépartement de PédiatrieHôpital Mère-Enfant, Université Claude Bernard, Lyon, FranceFederal State Institution 'Endocrinology Scientific Center of Russian Medical Technology'Moscow, RussiaEndocrine ServiceHospital de Pediatría Garrahan, Ciudad Autónoma de Buenos Aires, Buenos Aires, ArgentinaIRCCS Istituto Giannina Gaslini di GenovaClinica Pediatrica, Università di Genova, Genova, ItalyPediatra d.U. Azienda Ospedaliera Universitaria IntegrataUniversità di Verona, Verona, ItalyManchester Academic Health Sciences CentreRoyal Manchester Children's Hospital, 5th Floor, Oxford Road, Manchester M13 9WL, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-15-0474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623334PMC
December 2015

Elisabeth Holme.

J Inherit Metab Dis 2015 Nov;38(6):1159-60

SSIEM, 130-132 Tooley Street, London, SE1 2TU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9892-yDOI Listing
November 2015

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.

Hum Mol Genet 2015 Oct 21;24(19):5500-11. Epub 2015 Jul 21.

Department of Life and Reproduction Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv276DOI Listing
October 2015

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

Neurology 2015 Sep 29;85(9):756-62. Epub 2015 Jul 29.

From the Department of Pediatrics, Division of Genetic Medicine (H.C.M., M.Z., E.G., J.C.), and the Departments of Neurology and Pediatrics, Division of Pediatric Neurology (S.M.G.), University of Washington, Seattle; the Division of Genetic Medicine (H.C.M.), Seattle Children's Hospital, WA; the Centre for Translational Omics, Genetics, and Genomic Medicine (P.T.C., P.B.M.), UCL Institute of Child Health, London, UK; the Department of Pediatrics (K.P., B.P.), Division of Child Neurology, University Hospital Graz, Austria; the Division of Child Neurology (B.P.), University Children's Hospital Zurich, University of Zurich, Switzerland; the Departments of Pediatrics and Neurology (D.R.N.), Northwestern University Feinberg School of Medicine, Evanston, IL; the Departments of Pediatrics and Neurology (D.R.N.), Ann & Robert H. Lurie Children's Hospital of Chicago, IL; and the Departments of Neurology and Pediatrics, Division of Pediatric Neurology (S.M.G.), Seattle Children's Hospital, WA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553021PMC
September 2015

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

JIMD Rep 2015 12;22:67-75. Epub 2015 Mar 12.

Divisions of Medical Genetics (AL, AML, CBG, GM) and Neurology (PD, ER), Department of Paediatrics, Biochemical Genetics Laboratory (CBG, PA), CHU Sainte-Justine and Université de Montréal, 3175 Côte-Sainte-Catherine, Montreal, QC, Canada, H3T 1C5.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486275PMC
July 2015

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

J Inherit Metab Dis 2015 May 29;38(3):445-57. Epub 2014 Oct 29.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation trust, St Mary's Hospital, 6th Floor, Oxford Road, Manchester, M 13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9778-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432108PMC
May 2015

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

J Clin Endocrinol Metab 2015 May 5;100(5):E789-98. Epub 2015 Mar 5.

Cincinnati Center for Growth Disorders (C.d.B., S.F.A., V.H., A.D.), Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Institute of Maternal and Child Research (V.M.), Faculty of Medicine, University of Chile, 226-3 Santiago, Chile; Laboratory for Diagnostic Genome Analysis (H.A.v.D., M.L.), Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands; Department of Genetics (N.S.V., D.C.v.G.), Erasmus MC, 3015 CE Rotterdam, The Netherlands; Center for Autoimmune Genomics and Etiology (A.P.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Pediatrics Division (H.G.), Faculty of Medicine, Pontificia Universidad Catolica de Chile Santiago, 340 Santiago, Chile; Division of Developmental Biology (Y.K.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Institute of Human Development (D.H., P.C.), University of Manchester and Manchester Academic Health Sciences Centre, Manchester M13 9PL, United Kingdom; and Department of Pediatrics (J.M.W.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://repositorio.uchile.cl/bitstream/handle/2250/134110/An
Web Search
http://press.endocrine.org/doi/10.1210/jc.2015-1098
Publisher Site
http://dx.doi.org/10.1210/jc.2015-1098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422886PMC
May 2015

A preterm neonate with seizures unresponsive to conventional treatment.

BMJ Case Rep 2015 May 14;2015. Epub 2015 May 14.

Section of Pediatrics, Department of Translational Medical Sciences, Università "Federico II", Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2015-209743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4434345PMC
May 2015

Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion.

Horm Res Paediatr 2015 Apr 22. Epub 2015 Apr 22.

Department of Paediatric Endocrinology, Leicester Royal Infirmary, Leicester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000380949DOI Listing
April 2015

Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.

JIMD Rep 2014 26;17:67-70. Epub 2014 Sep 26.

T.Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2014_338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241198PMC
November 2014

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Neurology 2014 Nov 8;83(20):1873-5. Epub 2014 Oct 8.

From UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery (J.H., N.W.W., H.H.); Great Ormond Street Hospital for Children NHS Foundation Trust (D.B., G.A., T.S.J.); UCL Institute of Child Health (R.C., T.S.J., P.M., P.G.); Barts NHS Trust (J.F.), Royal London Hospital; and UCL (P.G., S.E.M.), London, UK.

View Article

Download full-text PDF

Source
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000098
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240432PMC
November 2014

Manganese and the brain.

Int Rev Neurobiol 2013 ;110:277-312

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-12-410502-7.00013-2DOI Listing
July 2014

Identifying biological pathways that underlie primordial short stature using network analysis.

J Mol Endocrinol 2014 Jun 7;52(3):333-44. Epub 2014 Apr 7.

Institute of Human DevelopmentFaculty of Medical and Human Sciences, The University of Manchester, Oxford Road, Manchester M13 9WL, UKManchester Academic Health Sciences Centre (MAHSC)Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UKInstitute of Human DevelopmentFaculty of Medical and Human Sciences, The University of Manchester, Oxford Road, Manchester M13 9WL, UKManchester Academic Health Sciences Centre (MAHSC)Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/JME-14-0029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045235PMC
June 2014

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Neurology 2014 Apr 21;82(16):1425-33. Epub 2014 Mar 21.

From the Department of Pediatrics (B.P., L.A.), Division of Child Neurology, University Hospital Zurich, Switzerland; the Department of Pediatrics (B.P.), Division of Neurology and Inborn Errors of Metabolism, Medical University Graz, Austria; radiz-"Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich" (B.P., L.A.); CRC Clinical Research Center (B.P.), University Childrens' Hospital Zurich, Switzerland; the Laboratory of Metabolic Diseases (K.P., E.P., D.H.), Department of Pediatrics, University Hospital Graz, Austria; UCL Institute of Child Health (P.M., P.C.), Clinical and Molecular Genetics Unit, London, UK; Childrens Hospital St. Gallen (O.M., O.H.), Switzerland; the Department of Pediatrics (G.H.), Klinikum Esslingen; the Department of Pediatrics (S.K.), St. Marien Hospital, Landshut, Germany; the Division of Child Neurology (M.C.) and Division of Biochemical Diseases (S.S.), Department of Pediatrics, University of British Columbia, Vancouver, Canada; the Department of Pediatrics, Division of Child Neurology (N.W.), VU University Medical Center and Neuroscience Campus Amsterdam; and the Department of Clinical Chemistry (E.S.), Vrije Universiteit Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001193PMC
April 2014

Reduced Glycemic Variability in Diazoxide-Responsive Children with Congenital Hyperinsulinism Using Supplemental Omega-3-Polyunsaturated Fatty Acids; A Pilot Trial with MaxEPA(R.).

Front Endocrinol (Lausanne) 2014 12;5:31. Epub 2014 Mar 12.

Department of Paediatric Endocrinology, Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust , Manchester , UK ; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester , Manchester , UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2014.00031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3952031PMC
March 2014

Metformin in the treatment of obese children and adolescents at risk of type 2 diabetes.

Paediatr Drugs 2014 Feb;16(1):13-20

Lancashire Teaching Hospitals NHS Foundation Trust, Royal Preston Hospital, Sharoe Green Lane, Preston, PR2 9HT, UK,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40272-013-0045-1DOI Listing
February 2014

No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening.

Arch Dis Child 2014 Feb 13;99(2):158-64. Epub 2013 Nov 13.

Department of Biochemistry, Central Manchester University Hospitals NHS Foundation Trust, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2013-304473DOI Listing
February 2014

The impact of malaria in pregnancy on changes in blood pressure in children during their first year of life.

Hypertension 2014 Jan 14;63(1):167-72. Epub 2013 Oct 14.

Cardiovascular Medicine Group, Division of Diabetes and Nutrition, 4th floor, Franklin-Wilkins Bldg, 150 Stamford St, King's College & King's Health Partners, London SE1 9RN, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/HYPERTENSIONAHA.113.02238DOI Listing
January 2014

Pediatric perspective on pharmacogenomics.

Pharmacogenomics 2013 Nov;14(15):1889-905

Institute of Human Development, Medical & Human Sciences, University of Manchester & Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, 5th Floor Research, Oxford Road, Manchester, M13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/pgs.13.193DOI Listing
November 2013

Human growth is associated with distinct patterns of gene expression in evolutionarily conserved networks.

BMC Genomics 2013 Aug 13;14:547. Epub 2013 Aug 13.

Manchester Academic Health Sciences Centre, Faculty of Medical and Human Sciences, Royal Manchester Children's Hospital and the Institute of Human Development, University of Manchester, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2164-14-547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765282PMC
August 2013

A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

J Proteome Res 2013 Jul 17;12(7):3471-9. Epub 2013 Jun 17.

Biochemistry Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, University College London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/pr400328gDOI Listing
July 2013

Characterizing short stature by insulin-like growth factor axis status and genetic associations: results from the prospective, cross-sectional, epidemiogenetic EPIGROW study.

J Clin Endocrinol Metab 2013 Jun 17;98(6):E1122-30. Epub 2013 Apr 17.

University of Manchester, Manchester Academic Health Sciences Centre, Pediatric Endocrinology, Fifth Floor (Research), Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2012-4283DOI Listing
June 2013

Spectroscopic studies on nicotine and nornicotine in the UV region.

Chirality 2013 May 14;25(5):288-93. Epub 2013 Mar 14.

British American Tobacco, Group R&D, Regents Park Road, Southampton, SO15 8TL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/chir.22141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654167PMC
May 2013

Endocrine control of growth.

Am J Med Genet C Semin Med Genet 2013 May;163C(2):76-85

National Institute Health Research (NIHR), University of Manchester and Royal Manchester Children' Hospital, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31357DOI Listing
May 2013

Can network biology unravel the aetiology of congenital hyperinsulinism?

Orphanet J Rare Dis 2013 Feb 8;8:21. Epub 2013 Feb 8.

Department of Endocrinology, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599136PMC
February 2013