Publications by authors named "Sandrine Vuillaumier Barrot"

39Publications

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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October 2019

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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July 2018

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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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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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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March 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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October 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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February 2013

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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November 2009

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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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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May 2005