Peter T Clayton

Peter T Clayton

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Peter T Clayton

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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.

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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.

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http://doi.wiley.com/10.1002/jimd.12060
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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.

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

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.

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

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

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

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

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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.

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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.

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

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,

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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.

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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.

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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.

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

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

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:

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

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.

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

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 Jan 11;36(1):139-45. Epub 2012 May 11.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://link.springer.com/10.1007/s10545-012-9493-y
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http://dx.doi.org/10.1007/s10545-012-9493-yDOI Listing
January 2013

Inborn errors of metabolism causing epilepsy.

Dev Med Child Neurol 2013 Jan 24;55(1):23-36. Epub 2012 Sep 24.

Clinical and Molecular Genetics and Neurosciences Units, University College London Institute of Child Health, London and Metabolic and Neurosciences Units, Great Ormond Street Hospital for Children NHS Trust, London, UK.

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http://doi.wiley.com/10.1111/j.1469-8749.2012.04406.x
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http://dx.doi.org/10.1111/j.1469-8749.2012.04406.xDOI Listing
January 2013

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

J Inherit Metab Dis 2012 Nov 9;35(6):1031-6. Epub 2012 Mar 9.

Clinical and Molecular Genetics Unit, Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-012-9466-1DOI Listing
November 2012

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.

Mov Disord 2012 Sep 23;27(10):1317-22. Epub 2012 Aug 23.

Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664426PMC
September 2012

Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.

World J Gastroenterol 2012 Jul;18(25):3322-6

Paediatric Liver Service and Institute of Liver Studies, King's College Hospital, London SE5 9RS, United Kingdom.

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http://dx.doi.org/10.3748/wjg.v18.i25.3322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3391772PMC
July 2012

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

J Inherit Metab Dis 2012 May 17;35(3):521-30. Epub 2011 Nov 17.

Clinical & Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK.

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http://link.springer.com/10.1007/s10545-011-9416-3
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http://dx.doi.org/10.1007/s10545-011-9416-3DOI Listing
May 2012

Differential diagnosis in patients with suspected bile acid synthesis defects.

World J Gastroenterol 2012 Mar;18(10):1067-76

Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children´s Hospital, Heidelberg D-69120, Germany.

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http://dx.doi.org/10.3748/wjg.v18.i10.1067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296980PMC
March 2012

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.

Lancet Neurol 2011 Aug;10(8):721-33

Neurosciences Unit, UCL-Institute of Child Health, London UK.

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http://dx.doi.org/10.1016/S1474-4422(11)70141-7DOI Listing
August 2011

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

J Inherit Metab Dis 2011 Apr 9;34(2):529-38. Epub 2011 Feb 9.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-011-9279-7DOI Listing
April 2011

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

J Med Genet 2010 Sep 20;47(9):608-15. Epub 2010 Jul 20.

Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmg.2009.074302DOI Listing
September 2010

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

Dev Med Child Neurol 2010 Jul 29;52(7):e133-42. Epub 2010 Mar 29.

Department of Neurology, University Children's Hospital, Steinwiesstrasse 75, Zurich, Switzerland.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03660.xDOI Listing
July 2010

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

Hum Mutat 2009 Feb;30(2):248-54

Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/humu.20852DOI Listing
February 2009

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Hum Mutat 2009 Jan;30(1):93-8

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.20833DOI Listing
January 2009

Transaldolase deficiency in a two-year-old boy with cirrhosis.

Mol Genet Metab 2008 Jun 10;94(2):255-8. Epub 2008 Mar 10.

Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2008.01.011DOI Listing
June 2008

Human Delta4-3-oxosteroid 5beta-reductase (AKR1D1) deficiency and steroid metabolism.

Steroids 2008 Apr 14;73(4):417-23. Epub 2007 Dec 14.

Department of Endocrinology, Azienda Sanitaria Locale (ASL) 1, Sassari, Italy.

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http://dx.doi.org/10.1016/j.steroids.2007.12.001DOI Listing
April 2008

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.

J Inherit Metab Dis 2008 Apr 4;31(2):151-63. Epub 2008 Apr 4.

University College London Institute of Child Health with Great Ormond Street Hospital for Children NHS Trust, London, UK.

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http://dx.doi.org/10.1007/s10545-008-0813-1DOI Listing
April 2008

Neurotransmitter diseases and related conditions.

Mol Genet Metab 2007 Nov;92(3):189-97

Department of Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2007.08.117DOI Listing
November 2007

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Ann Neurol 2007 Oct;62(4):414-8

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ana.21206
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http://dx.doi.org/10.1002/ana.21206DOI Listing
October 2007

B6-responsive disorders: a model of vitamin dependency.

Authors:
Peter T Clayton

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):317-26

Biochemistry, Endocrinology and Metabolism, Institute of Child Health, 30 Guilford St, London, WC1N 1 EH, UK.

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http://www.springerlink.com/index/X5J7762495122123.pdf
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http://dx.doi.org/10.1007/s10545-005-0243-2DOI Listing
January 2007

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Nat Med 2006 Mar 19;12(3):307-9. Epub 2006 Feb 19.

Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK.

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http://dx.doi.org/10.1038/nm1366DOI Listing
March 2006

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

Ann Neurol 2005 Aug;58(2):234-41

Genetics Unit, Department of Biochemistry, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/ana.20550DOI Listing
August 2005

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.

J Pediatr 2005 May;146(5):706-8

London Centre for Paediatric Endocrinology and Metabolism, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.jpeds.2005.01.032DOI Listing
May 2005

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Hum Mol Genet 2005 Apr 16;14(8):1077-86. Epub 2005 Mar 16.

Institute of Child Health, University College London with Great Ormond Street Hospital for Children, NHS Trust, London WC1N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddi120DOI Listing
April 2005

"African medicine" and Reye's syndrome.

Lancet 2004 Mar;363(9412):860

Paediatric Intensive Care Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK.

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http://dx.doi.org/10.1016/S0140-6736(04)15733-4DOI Listing
March 2004

The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.

Glycobiology 2003 Feb 17;13(2):73-85. Epub 2002 Dec 17.

Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health At Great Ormond Street Hospital, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1093/glycob/cwg026DOI Listing
February 2003

Synthesis and analysis of conjugates of the major vitamin E metabolite, alpha-CEHC.

Free Radic Biol Med 2002 Sep;33(6):807-17

Biochemistry, Endocrinology and Metabolism Unit, The Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1016/s0891-5849(02)00974-7DOI Listing
September 2002

Inborn errors presenting with liver dysfunction.

Authors:
Peter T Clayton

Semin Neonatol 2002 Feb;7(1):49-63

Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health, University College London and Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1053/siny.2001.0086DOI Listing
February 2002