Sandrine Vuillaumier-Barrot

Sandrine Vuillaumier-Barrot

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Sandrine Vuillaumier-Barrot

Sandrine Vuillaumier-Barrot

Publications by authors named "Sandrine Vuillaumier-Barrot"

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34Publications

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Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.

Brain Dev 2019 Oct 10;41(9):808-811. Epub 2019 Jun 10.

AP-HP, Robert Debré Hospital, Department of Pediatric Neurology, Paris, France; Université de Paris, INSERM UMR1141, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.05.008DOI Listing
October 2019

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.

Electrophoresis 2018 12 3;39(24):3123-3132. Epub 2018 Jul 3.

Service de Pharmacologie et d'Immunoanalyse, Laboratoire d'Etude du Métabolisme des Médicaments, CEA, INRA, Université Paris Saclay, Gif-sur-Yvette, France.

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http://doi.wiley.com/10.1002/elps.201800021
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http://dx.doi.org/10.1002/elps.201800021DOI Listing
December 2018

CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Mol Genet Metab 2018 07 9;124(3):228-235. Epub 2018 May 9.

AP-HP, Bichat University Hospital, Biochemistry, Paris, France; INSERM UMR-1193 "Mécanismes cellulaires et moléculaires de l'adaptation au stress et cancérogenèse", Université Paris-Sud, Châtenay-Malabry, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.05.002DOI Listing
July 2018

Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation.

Clin Chim Acta 2017 Jul 27;470:70-74. Epub 2017 Apr 27.

AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat, Paris, France; Université Paris Descartes, France.

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http://dx.doi.org/10.1016/j.cca.2017.04.022DOI Listing
July 2017

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Dev Med Child Neurol 2016 10 13;58(10):1085-91. Epub 2016 May 13.

Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital - University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/dmcn.13141DOI Listing
October 2016

A Case of Progressive Chorea Resulting From GLUT1 Deficiency.

Mov Disord Clin Pract 2015 Dec 18;2(4):424-425. Epub 2015 Aug 18.

Department of Child and Adolescent Neurology National Institute of Mongi Ben Hmida of Neurology Tunis Tunisia.

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http://dx.doi.org/10.1002/mdc3.12191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178750PMC
December 2015

A Cause of Permanent Ketosis: GLUT-1 Deficiency.

JIMD Rep 2015 26;18:79-83. Epub 2014 Sep 26.

Pediatric Department, Nantes University Hospital, Boulevard Jean Monnet, 44093, Nantes, France,

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http://dx.doi.org/10.1007/8904_2014_352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361925PMC
March 2015

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein.

J Neuromuscul Dis 2015 ;2(1):27-38

AP-HP, Hospital Bichat, Biochemistry, Paris, France.

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January 2015

Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: a pediatric observation.

Mov Disord 2013 Oct 6;28(12):1749-51. Epub 2013 May 6.

Centre Hospitalier Universitaire (CHU) Clermont-Ferrand, Hôpital Estaing, Service de Pédiatrie Générale Multidisciplinaire, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/mds.25484DOI Listing
October 2013

The multiple faces of the ATP1A3-related dystonic movement disorder.

Mov Disord 2013 Sep 8;28(10):1457-9. Epub 2013 Mar 8.

AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau Paris, France.

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http://dx.doi.org/10.1002/mds.25396DOI Listing
September 2013

Expanding the Spectrum of PMM2-CDG Phenotype.

JIMD Rep 2012 25;5:123-5. Epub 2011 Dec 25.

Laboratoire de Biochimie, AP-HP, Hôpital Bichat-Claude Bernard, 46, rue Henri Huchard, 75877, Paris Cedex 18, France,

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http://dx.doi.org/10.1007/8904_2011_114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509917PMC
February 2013

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Mol Genet Metab 2010 Oct-Nov;101(2-3):253-7. Epub 2010 Jun 22.

AP-HP, Hôpital Necker-Enfants Malades, Centre de médecine fœtale et Maternité de Necker-Brune, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.009DOI Listing
January 2011

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

Eur J Med Genet 2009 Jul-Aug;52(4):201-6. Epub 2008 Dec 27.

Inserm, U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, UPMC University Paris 06, UMR_S582, IFR14, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.12.004DOI Listing
November 2009

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Neuromuscul Disord 2008 Jan 14;18(1):45-51. Epub 2007 Sep 14.

Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Foundation for Research on Aging and Promotion of Human Welfare, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2007.08.002DOI Listing
January 2008

PMM2 intronic branch-site mutations in CDG-Ia.

Mol Genet Metab 2006 Apr 20;87(4):337-40. Epub 2005 Dec 20.

Biochimie A, Hôpital Bichat-Claude Bernard, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2005.10.015DOI Listing
April 2006

A new insight into PMM2 mutations in the French population.

Hum Mutat 2005 May;25(5):504-5

Biochimie A, Hôpital Bichat-Claude Bernard, 75877 Paris cedex 18, France.

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http://dx.doi.org/10.1002/humu.9336DOI Listing
May 2005

Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.

Clin Chem 2002 Jun;48(6 Pt 1):934-6

Laboratoire de Biochimie A, Hôpital Bichat, AP-HP, 75877 Paris Cedex 18, France.

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June 2002

Preproendothelin-1 gene polymorphism is related to a change in vascular reactivity in the human mammary artery in vitro.

Hypertension 2002 Feb;39(2):209-13

Institut National de la Santé et de la Recherche Médicale (INSERM) U 541,IFR Circulation-Paris VII, Université Paris VII, Paris, France.

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http://dx.doi.org/10.1161/hy0202.103442DOI Listing
February 2002