Philippe Labrune

Philippe Labrune

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Philippe Labrune

Publications by authors named "Philippe Labrune"

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Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Muscle Nerve 2019 07 24;60(1):72-79. Epub 2019 Apr 24.

APHP, Service de Radiologie GHU PIFO pôle neuro-locomoteur, Hôpital Raymond Poincaré, Garches, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.26483
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http://dx.doi.org/10.1002/mus.26483DOI Listing
July 2019

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.

J Inherit Metab Dis 2018 11 16;41(6):947-953. Epub 2018 Apr 16.

Centre de Référence des Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, HUPS, AP-HP, Clamart, France.

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http://dx.doi.org/10.1007/s10545-018-0182-3DOI Listing
November 2018

Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.

Neurol Genet 2017 Dec 18;3(6):e208. Epub 2017 Dec 18.

Assistance Publique-Hôpitaux de Paris (APHP) (R.B.Y., B.E., P.L.), Groupe Hospitalier Universitaire la Pitié-Salpêtrière, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie; Sorbonne Universités (R.B.Y., I.N., M.B., G.B.), UPMC Université Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, Paris; Department of Molecular Genetics (A.H., F.P., F.M.P.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Clamart; Department of Pediatrics (A.H., P.L.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Referal Center for Metabolic Liver Inherited Diseases, Clamart, and Université Paris-Sud, France; Department of Neurology (J.R.D., T.K., J.V.), Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen; Department of Neurology (D.G.), Odense University Hospital, Denmark; Hospices Civils de Lyon (N.S.), Groupement Hospitalier Est, Centre de Pathologie et Neuropathologie Est, Service de Neuropathologie, Université Claude-Bernard Lyon 1, CNRS UMR5239, LBMC, ENS; AP-HM, Département de Génétique Médicale (M.K., M.C., M.B.), Hôpital Timone Enfants; Aix Marseille Université (M.K., M.C., M.B.), Inserm, GMGF, UMR_S910; Hospices Civils de Lyon (P.P.), Hôpital la Croix-Rousse, Département de Neurologie, Université Claude Bernard Lyon 1; CHU Besançon (F.M.), Hôpital Jean Minjoz, Centre de Référence de Pathologie Neuromusculaire; Unité de morphologie neuromusculaire (E.M., N.R.), Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Sorbonne Universités UPMC Université Paris 06; Assistance Publique-Hôpitaux de Paris (APHP) (R.Y.C.), Service d'imagerie Médicale, CIC-IT Handicap, Hôpital Raymond Poincaré, Garches, France; and Department of Clinical Genetics (M.D.), Rigshospitalet, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1212/NXG.0000000000000208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306PMC
December 2017

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Fertil Steril 2017 07 1;108(1):168-174. Epub 2017 Jun 1.

Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2017.05.013DOI Listing
July 2017

Molecular Classification of Hepatocellular Adenoma Associates With Risk Factors, Bleeding, and Malignant Transformation.

Gastroenterology 2017 03 7;152(4):880-894.e6. Epub 2016 Dec 7.

Unité Mixte de Recherche 1162, Génomique Fonctionnelle des Tumeurs Solides, Institut National de la Santé et de la Recherche Médicale, Université Paris Descartes, Université Paris Diderot, Paris, France; Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Département d'Oncologie, Paris, France. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.11.042DOI Listing
March 2017

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

J Inherit Metab Dis 2016 09 22;39(5):697-704. Epub 2016 Apr 22.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9932-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987401PMC
September 2016

Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.

Birth Defects Res A Clin Mol Teratol 2016 Apr 2;106(4):298-303. Epub 2016 Mar 2.

Service d'Histologie Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, APHP, Clamart, France.

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http://doi.wiley.com/10.1002/bdra.23457
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http://dx.doi.org/10.1002/bdra.23457DOI Listing
April 2016

Peripheral neuropathy in glycogen storage disease type III: Fact or myth?

Muscle Nerve 2016 Feb 29;53(2):310-2. Epub 2015 Dec 29.

AP-HP, G-H Pitié-Salpêtrière, Institut de Myologie, centre de référence des maladies neuromusculaires Paris Est, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.24977DOI Listing
February 2016

Impact of chest radiography for children with lower respiratory tract infection: a propensity score approach.

PLoS One 2014 2;9(5):e96189. Epub 2014 May 2.

Inserm, CESP Centre for research in Epidemiology and Population Health, U1018, Reproduction and Child Development Team, Le Kremlin Bicêtre, France; APHP, Paediatric Department, Hopital Antoine Béclère, Clamart, France; Université Paris Sud 11, Kremlin Bicêtre, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0096189PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4008561PMC
June 2015

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

J Inherit Metab Dis 2015 May 12;38(3):573-80. Epub 2014 Nov 12.

APHP, Groupe Hospitalier Pitié-Salpêtrière, Centre de Référence des Pathologies Neuromusculaires Paris-Est, Institut de Myologie, 83 boulevard de l'Hôpital, 75680, Paris CEDEX 13, France,

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http://dx.doi.org/10.1007/s10545-014-9789-1DOI Listing
May 2015

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.

Mol Cytogenet 2015 1;8. Epub 2015 Feb 1.

Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart, F-92140 France.

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http://dx.doi.org/10.1186/s13039-015-0107-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322561PMC
February 2015

Growth development of French children born after in vitro maturation.

PLoS One 2014 26;9(2):e89713. Epub 2014 Feb 26.

Unité de Formation et de Recherche Kremlin Bicêtre, Université Paris-Sud, Le Kremlin Bicêtre, France ; Service de Pédiatrie, Hôpital Antoine Béclère, Hôpitaux Universitaires Paris Sud, Assistance Publique - Hôpitaux de Paris, Clamart, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089713PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935896PMC
January 2015

First autochthonous familial cluster of invasive community-acquired leukocidin-positive methicillin-resistant USA300 Staphylococcus aureus in France.

Folia Microbiol (Praha) 2014 Nov 24;59(6):473-6. Epub 2014 May 24.

Department of Paediatrics, Centre Hospitalier Sud-Essonne, site de Dourdan, 91415, Dourdan, France.

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http://dx.doi.org/10.1007/s12223-014-0322-6DOI Listing
November 2014

Correction of hyperbilirubinemia in gunn rats by surgical delivery of low doses of helper-dependent adenoviral vectors.

Hum Gene Ther Methods 2014 Jun 14;25(3):181-6. Epub 2014 Apr 14.

1 Institut National de la Santé et de la Recherche Médicale (INSERM) UMRS 1064, Centre Hospitalier Universitaire (CHU) Hôtel Dieu , 44093 Nantes, France .

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http://dx.doi.org/10.1089/hgtb.2013.236DOI Listing
June 2014

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

JIMD Rep 2013 27;11:117-23. Epub 2013 Apr 27.

Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, 78 rue du Général Leclerc, Le Kremlin-Bicêtre Cedex, 94275, France.

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http://dx.doi.org/10.1007/8904_2013_230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755544PMC
August 2013

Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?

Mol Genet Metab 2013 May 19;109(1):14-20. Epub 2013 Feb 19.

Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2013.02.008DOI Listing
May 2013

Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia.

JIMD Rep 2011 22;1:97-106. Epub 2011 Jun 22.

APHP, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, Hôpital Antoine Béclère, 157 Rue de la Porte de Trivaux, 92141, Clamart cedex, France,

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http://dx.doi.org/10.1007/8904_2011_23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509818PMC
February 2013

Successful plasmapheresis for acute and severe unconjugated hyperbilirubinemia in a child with crigler najjar type I syndrome.

JIMD Rep 2012 6;2:33-6. Epub 2011 Sep 6.

APHP, Service de Néphrologie Pédiatrique, Hôpital Robert Debré, Boulevard Serrurier, 75019, Paris, France.

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http://dx.doi.org/10.1007/8904_2011_40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509837PMC
February 2013

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Mol Genet Metab 2012 Nov 6;107(3):438-47. Epub 2012 Aug 6.

Biochimie - Hôpital de Bicêtre, Hôpitaux Universitaires Paris-Sud, APHP-Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.025DOI Listing
November 2012

Glucose-6-phosphatase deficiency.

Orphanet J Rare Dis 2011 May 20;6:27. Epub 2011 May 20.

Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, APHP, Clamart cedex, France.

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http://dx.doi.org/10.1186/1750-1172-6-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118311PMC
May 2011

Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.

J Inherit Metab Dis 2010 Dec 20;33 Suppl 3:S477-80. Epub 2010 Nov 20.

APHP, Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.

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http://dx.doi.org/10.1007/s10545-010-9243-yDOI Listing
December 2010

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Eur J Hum Genet 2010 Aug 28;18(8):882-8. Epub 2010 Apr 28.

AP-HP, Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, Clamart Cedex, France.

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http://dx.doi.org/10.1038/ejhg.2010.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987392PMC
August 2010

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Mol Genet Metab 2008 Aug 9;94(4):443-7. Epub 2008 Jun 9.

Laboratoire de Biochimie, CHU de Bicêtre, Assistance Publique-Hôpitaux de Paris, 78, rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France et Université Paris XI, IFR Bicêtre, France.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.003DOI Listing
August 2008

The Tunisian population history through the Crigler-Najjar type I syndrome.

Eur J Hum Genet 2008 Jul 16;16(7):848-53. Epub 2008 Jan 16.

Department of Biochemistry, Antoine Béclère Hospital, Université Paris Sud, UFR Kremlin Bicêtre, Clamart Cedex, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201989DOI Listing
July 2008

[Natural history of hepatic glycogen storage diseases].

Presse Med 2008 Jul-Aug;37(7-8):1172-7. Epub 2008 Feb 29.

Service de pédiatrie, Centre de référence des maladies héréditaires du métabolisme hépatique, AP-HP, Hôpital Antoine Béclère, F-92141 Clamart Cedex, France.

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http://dx.doi.org/10.1016/j.lpm.2007.09.023DOI Listing
July 2008

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Am J Med Genet A 2007 Oct;143A(20):2417-22

Laboratoire de Cytogénétique, AP-HP, Hôpital Saint-Antoine, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.31931DOI Listing
October 2007

Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells.

Fetal Diagn Ther 2006 ;21(5):428-32

Service d'Histologie Embryologie Cytogénétique, Hôpital Antoine Béclère (APHP), Clamart, France.

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http://dx.doi.org/10.1159/000093885DOI Listing
September 2006

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.

Mol Genet Metab 2006 May 21;88(1):96-9. Epub 2006 Feb 21.

Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192050045
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http://dx.doi.org/10.1016/j.ymgme.2005.12.011DOI Listing
May 2006

Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI.

Prenat Diagn 2005 Apr;25(4):307-10

Department of Radiology, Hospital Antoine Béclère, 92140 Clamart, France.

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http://doi.wiley.com/10.1002/pd.1128
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http://dx.doi.org/10.1002/pd.1128DOI Listing
April 2005

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

Eur J Hum Genet 2005 Mar;13(3):278-82

Service de Biochimie et Hormonologie, Hôpital Antoine Béclère, Clamart, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201342DOI Listing
March 2005

Increased levels of hemostatic proteins are independent of inflammation in glycogen storage disease type Ia.

J Pediatr Gastroenterol Nutr 2003 Nov;37(5):566-70

Service d'Hématologie Biologique, Hôpital Antoine Béclère, Clamart, France.

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http://dx.doi.org/10.1097/00005176-200311000-00011DOI Listing
November 2003

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

Eur J Pediatr 2002 Oct 22;161 Suppl 1:S20-34. Epub 2002 Aug 22.

Department of Paediatrics, Beatrix Children's Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands.

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http://link.springer.com/10.1007/s00431-002-0999-4
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http://dx.doi.org/10.1007/s00431-002-0999-4DOI Listing
October 2002

Glycogen storage disease type I: indications for liver and/or kidney transplantation.

Authors:
Philippe Labrune

Eur J Pediatr 2002 Oct 19;161 Suppl 1:S53-5. Epub 2002 Jul 19.

Service de Pédiatrie et Consultation de Génétique, Hôpital Antoine Béclère (AP-HP), BP 405, 92141 Clamart cedex, France.

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http://link.springer.com/10.1007/s00431-002-1004-y
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http://dx.doi.org/10.1007/s00431-002-1004-yDOI Listing
October 2002

Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1.

Eur J Pediatr 2002 Oct 17;161 Suppl 1:S83-7. Epub 2002 Jul 17.

Beatrix Children's Hospital, University Hospital, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-002-1010-0DOI Listing
October 2002

Severe pulmonary arterial hypertension in type 1 glycogen storage disease.

Eur J Pediatr 2002 Oct 31;161 Suppl 1:S93-6. Epub 2002 Jul 31.

Service de Pneumologie, Centre des Maladies Vasculaires Pulmonaires, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92140 Clamart, France.

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http://link.springer.com/10.1007/s00431-002-1012-y
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http://dx.doi.org/10.1007/s00431-002-1012-yDOI Listing
October 2002

Contraception and pregnancy in women affected by glycogen storage diseases.

Eur J Pediatr 2002 Oct 4;161 Suppl 1:S97-101. Epub 2002 Sep 4.

Service de Gynécologie-Obstétrique, Hôpital Antoine-Béclère, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France.

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http://dx.doi.org/10.1007/s00431-002-1013-xDOI Listing
October 2002

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).

Eur J Pediatr 2002 Oct 24;161 Suppl 1:S112-9. Epub 2002 Aug 24.

Department of Paediatrics, Beatrix Children's Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-002-1016-7DOI Listing
October 2002

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.

Eur J Pediatr 2002 Oct 13;161 Suppl 1:S120-3. Epub 2002 Sep 13.

Beatrix Children's Hospital, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-002-1017-6DOI Listing
October 2002

Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

Prenat Diagn 2002 Oct;22(10):914-6

Laboratoire de Biochimie, Hôpital Antoine Béclère (AP-HP), 92141 Clamart cedex, France.

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http://dx.doi.org/10.1002/pd.443DOI Listing
October 2002

Is a polymorphism of the apolipoprotein E gene associated with preeclampsia?

Hypertens Pregnancy 2002 ;21(2):127-33

Department of Biochemistry, Hospital Antoine Béclère, Clamart, 92141, France.

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http://dx.doi.org/10.1081/PRG-120004768DOI Listing
September 2002

Abdominal pain and ketonuria in an 11-year-old girl five months after abdominal trauma.

J Pediatr Surg 2002 Sep;37(9):1361-2

Service de Pédiatrie, Service de Réanimation Médicale, and Service de Chirurgie, Hôpital Antoine Béclère, Clamart Cedex, France.

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http://dx.doi.org/10.1053/jpsu.2002.35015DOI Listing
September 2002

[Challenges of genetic diseases. About a genetic disease: cystic fibrosis].

Authors:
Philippe Labrune

Rev Prat 2002 Mar;52(6):679-82

Service de pédiatrie et consultation de génétique médicale, hôpital Antoine-Béclère, 92141 Clamart.

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March 2002