Philippa B Mills

Philippa B Mills

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Philippa B Mills

Philippa B Mills

Publications by authors named "Philippa B Mills"

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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

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

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

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.

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

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

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

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

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

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

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

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

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

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

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Biochim Biophys Acta 2005 Jun 9;1741(1-2):156-64. Epub 2004 Dec 9.

Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Institute of Neurology, Reinier Postlaan 4, 6525 GC Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2004.11.009DOI Listing
June 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

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

Evaluation of transgenic tomato plants expressing an additional phytoene synthase in a fruit-specific manner.

Proc Natl Acad Sci U S A 2002 Jan;99(2):1092-7

School of Biological Sciences, Royal Holloway, University of London, Egham, Surrey TW20 OEX, United Kingdom.

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http://dx.doi.org/10.1073/pnas.241374598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC117435PMC
January 2002