P Labrune

Summary

Country: France

Publications

  1. ncbi Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia
    Alix Mollet-Boudjemline
    APHP, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, Hopital Antoine Beclere, 157 rue de la Porte de Trivaux, 92141, Clamart Cedex, France
    JIMD Rep 1:97-106. 2011
  2. ncbi Glucose-6-phosphatase deficiency
    Roseline Froissart
    Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, APHP, Clamart Cedex, France
    Orphanet J Rare Dis 6:27. 2011
  3. ncbi [Natural history of hepatic glycogen storage diseases]
    Philippe Labrune
    Service de Pediatrie, Centre de référence des maladies héréditaires du métabolisme hépatique, AP HP, Hopital Antoine Beclere, F 92141 Clamart Cedex, France
    Presse Med 37:1172-7. 2008
  4. ncbi [Hepatomegaly: diagnosis approach]
    P Labrune
    , , , , BP 405, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 14:573-5. 2007
  5. ncbi Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20
    N Guediche
    Univ Paris Sud, Service d Histologie Embryologie et Cytogénétique, APHP, Hopital Antoine Beclere, Clamart, France
    Am J Med Genet A 152:464-71. 2010
  6. ncbi Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion
    M L Maurin
    Service d Histologie Embryologie Cytogénétique, INSERM U782, Universite Paris Sud, Hopital Antoine Beclere, APHP, Clamart, France
    Am J Med Genet A 149:226-31. 2009
  7. ncbi Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
    P Mabboux
    Service d Histologie Embryologie Cytogénétique, INSERM U782, Hopital Antoine Beclere, APHP, Universite Paris Sud, Clamart, France
    Am J Med Genet A 143:727-33. 2007
  8. ncbi Perinatal acquisition of drug-resistant HIV-1 infection: mechanisms and long-term outcome
    Constance Delaugerre
    EA 3620 MRT, Descartes University, Paris, France
    Retrovirology 6:85. 2009
  9. ncbi Inter-observer agreement between physicians, nurses, and respiratory therapists for respiratory clinical evaluation in bronchiolitis
    V Gajdos
    Unité Inserm U 822, Le Kremlin Bicetre, France
    Pediatr Pulmonol 44:754-62. 2009
  10. ncbi [Factors predicting serious bacterial infections in febrile infants less than three months old: multivariate analysis]
    V Gajdos
    Service de Pediatrie, Hopital Antoine Beclere, Assistance Publique Hopitaux de Paris, BP 405, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 12:397-403. 2005

Collaborators

Detail Information

Publications42

  1. ncbi Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia
    Alix Mollet-Boudjemline
    APHP, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, Hopital Antoine Beclere, 157 rue de la Porte de Trivaux, 92141, Clamart Cedex, France
    JIMD Rep 1:97-106. 2011
    ....
  2. ncbi Glucose-6-phosphatase deficiency
    Roseline Froissart
    Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, APHP, Clamart Cedex, France
    Orphanet J Rare Dis 6:27. 2011
    ..DISEASE NAME AND SYNONYMS: Glucose-6-phosphatase deficiency or G6P deficiency or glycogen storage disease type I or GSDI or type I glycogenosis or Von Gierke disease or Hepatorenal glycogenosis...
  3. ncbi [Natural history of hepatic glycogen storage diseases]
    Philippe Labrune
    Service de Pediatrie, Centre de référence des maladies héréditaires du métabolisme hépatique, AP HP, Hopital Antoine Beclere, F 92141 Clamart Cedex, France
    Presse Med 37:1172-7. 2008
    ..It is important to know the natural history and long-term outcome of these patients to improve their treatment during childhood. To reach this goal, collaboration between pediatric specialists and those who treat adults is essential...
  4. ncbi [Hepatomegaly: diagnosis approach]
    P Labrune
    , , , , BP 405, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 14:573-5. 2007
  5. ncbi Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20
    N Guediche
    Univ Paris Sud, Service d Histologie Embryologie et Cytogénétique, APHP, Hopital Antoine Beclere, Clamart, France
    Am J Med Genet A 152:464-71. 2010
    ..This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis...
  6. ncbi Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion
    M L Maurin
    Service d Histologie Embryologie Cytogénétique, INSERM U782, Universite Paris Sud, Hopital Antoine Beclere, APHP, Clamart, France
    Am J Med Genet A 149:226-31. 2009
    ..This case and review of literature suggest that two genes ArgBP2 and PDLIM3, located at 4q35.1 and both involved in cardiac and muscle development, could be responsible for cardiac defects observed in terminal 4q35.1 deletions...
  7. ncbi Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
    P Mabboux
    Service d Histologie Embryologie Cytogénétique, INSERM U782, Hopital Antoine Beclere, APHP, Universite Paris Sud, Clamart, France
    Am J Med Genet A 143:727-33. 2007
    ..We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation...
  8. ncbi Perinatal acquisition of drug-resistant HIV-1 infection: mechanisms and long-term outcome
    Constance Delaugerre
    EA 3620 MRT, Descartes University, Paris, France
    Retrovirology 6:85. 2009
    ..Primary-HIV-1-infection in newborns that occurs under antiretroviral prophylaxis that is a high risk of drug-resistance acquisition. We examine the frequency and the mechanisms of resistance acquisition at the time of infection in newborns...
  9. ncbi Inter-observer agreement between physicians, nurses, and respiratory therapists for respiratory clinical evaluation in bronchiolitis
    V Gajdos
    Unité Inserm U 822, Le Kremlin Bicetre, France
    Pediatr Pulmonol 44:754-62. 2009
    ..Thus, once the validity of this test has been confirmed in a large population sample, it should be possible to use this test to monitor children hospitalized with bronchiolitis and as an endpoint in clinical trials...
  10. ncbi [Factors predicting serious bacterial infections in febrile infants less than three months old: multivariate analysis]
    V Gajdos
    Service de Pediatrie, Hopital Antoine Beclere, Assistance Publique Hopitaux de Paris, BP 405, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 12:397-403. 2005
    ..To identify predictive factors of the presence of a serious bacterial infection (SBI) in febrile infants less than three months old...
  11. ncbi Unusual cerebral manifestations in hereditary fructose intolerance
    P Labrune
    Service de Pediatrie, Hopital Antoine Beclere, Clamart, France
    Arch Neurol 47:1243-4. 1990
    ..Neurological impairment is not classic in hereditary fructose intolerance, but its occurrence in the acute phase of the disease is possible and does not constitute an argument against the diagnosis...
  12. ncbi Crigler-Najjar type II disease inheritance: a family study
    P Labrune
    , , Clamart, France
    J Inherit Metab Dis 12:302-6. 1989
    ..The second infant of this couple was affected by the same disease and was treated with success by phenobarbital...
  13. ncbi [Construction and validation of an evaluation tool of sexual health using self-administered questionnaires for an application to metabolic diseases]
    F Petit
    Laboratoire de génétique moléculaire des maladies métaboliques, Hopital Antoine Beclere, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Prog Urol 23:210-8. 2013
    ..To elaborate and validate in general population a survey built with self-administered questionnaires in French about evaluation of sexual health for an application to men and women with metabolic disease...
  14. ncbi Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid
    P Labrune
    Service de Pediatrie, Hopital Antoine Béclere AP HP, Clamart, France
    Am J Med Genet 87:324-8. 1999
    ..In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction...
  15. ncbi [Influenza vaccination coverage rate in children with underlying chronic disorders in 7 French pediatric wards]
    C Weil-Olivier
    Service de Pediatrie, Hopital Louis Mourier, Assistance Publique Hopitaux de Paris, 178, rue des Renouillers, 92701 Colombes cedex 01, France
    Arch Pediatr 13:1287-93. 2006
    ..The national goal is to reach 75% influenza vaccination coverage by 2008, but data on coverage in high risk children are limited...
  16. ncbi Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases
    P Trioche
    Service de Pédiatrie and UPRES EA 2705, Hopital Antoine Béclere AP HP, Clamart Cedex, France
    J Inherit Metab Dis 27:621-3. 2004
    ..Among these, one is a novel mutation of G6PT: 855T>C (L229P)...
  17. ncbi [What evidence for chest physiotherapy in infants hospitalized for acute viral bronchiolitis?]
    S Bailleux
    Service de Pediatrie Generale, Hopital Antoine Beclere, AP HP, 157, rue de Porte de Trivaux, 92141 Clamart Cedex, France
    Arch Pediatr 18:472-5. 2011
    ..Further trials are necessary for evaluating this technique in infants who are not hospitalized...
  18. ncbi Terminal 14q32.33 deletion: genotype-phenotype correlation
    M L Maurin
    Service d Histologie Embryologie Cytogénétique APHP, INSERM U782, Hopital Antoine Beclere, Clamart, France
    Am J Med Genet A 140:2324-9. 2006
    ..6 Mb of chromosome 14...
  19. ncbi Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family
    A L'hermine-Coulomb
    Service d Anatomie Pathologique, Hopital Antoine Beclere, Clamart, France
    Am J Med Genet A 139:118-22. 2005
    ..Genetic analysis of the GBE gene may help to shed some light on the puzzling diversity of GSD IV phenotypes...
  20. ncbi Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia
    M Odievre
    Service de Pediatrie, Hĵpital Antoine Béclère AP HP, Clamart, France
    J Inherit Metab Dis 24:507-8. 2001
    ....
  21. ncbi Sweet syndrome as the presenting manifestation of chronic granulomatous disease in an infant
    D Sedel
    , , Clamart, France
    Pediatr Dermatol 11:237-40. 1994
    ..The precise relationship between the conditions remains to be determined. Granulocyte function should be evaluated in any infant with Sweet syndrome...
  22. ncbi Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency
    P Labrune
    Service de Pediatrie, Hopital Antoine Beclere, Clamart, France
    Eur J Pediatr 158:734-9. 1999
    ....
  23. ncbi Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis
    M Humbert
    Unité Propre de Recherche de l Enseignement Supérieur 2705, Centre des Maladies Vasculaires Pulmonaires, Hĵpital Antoine Béclère, Universite Paris Sud, Clamart, France
    Eur Respir J 20:59-65. 2002
    ..4 nmol x L(-1)). It is concluded that type-Ia glycogen-storage disease may be another condition in which abnormal handling of serotonin is one event in a multistep process leading to severe pulmonary arterial hypertension...
  24. ncbi The Tunisian population history through the Crigler-Najjar type I syndrome
    François M Petit
    Department of Biochemistry, Antoine Beclere Hospital, Universite Paris Sud, UFR Kremlin Bicêtre, Clamart Cedex, France
    Eur J Hum Genet 16:848-53. 2008
    ..After population migration from east to west, this mutation was introduced into the Tunisian population, and then perpetuated, probably because of marriages in isolated communities...
  25. ncbi Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP)
    Jeanne Francoual
    Laboratoire de Biochimie, , 92141 Clamart Cedex, France
    Prenat Diagn 22:914-6. 2002
    ..SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis...
  26. ncbi Glycogen storage disease type I: indications for liver and/or kidney transplantation
    Philippe Labrune
    Service de Pédiatrie et Consultation de Génétique, Hopital Antoine Béclere AP HP, BP 405, 92141 Clamart Cedex, France
    Eur J Pediatr 161:S53-5. 2002
    ..CONCLUSION: organ (liver/kidney) transplantation in glycogen storage disease type I may be advantageous when long-term metabolic control has been attempted. Nevertheless, post-transplantat long-term complications may still develop...
  27. ncbi Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)
    Jan Peter Rake
    Department of Paediatrics, Beatrix Children s Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
    Eur J Pediatr 161:S20-34. 2002
    ..With ageing, more and more complications will develop of which progressive renal disease and the complications related to liver adenomas are likely to be two major causes of morbidity and mortality...
  28. ncbi Recurring acute abdominal pains in an adolescent as the presenting manifestations of hereditary angioneurotic oedema
    Laurence Weiss
    Department of Paediatrics, , 92141 Clamart Cedex, France
    Acta Paediatr 94:1158-61. 2005
    ..CONCLUSIONS: Angioneurotic oedema is a rare condition, which should be suspected in children with recurring abdominal pains, especially when there is liquid within the peritoneal cavity...
  29. ncbi [Challenges of genetic diseases. About a genetic disease: cystic fibrosis]
    Philippe Labrune
    , , 92141 Clamart
    Rev Prat 52:679-82. 2002
  30. ncbi Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene
    Jeanne Francoual
    Hum Mutat 19:570-1. 2002
  31. ncbi Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
    François M Petit
    Service de Biochimie et Hormonologie, Hopital Antoine Beclere, Clamart, France
    Eur J Hum Genet 13:278-82. 2005
    ..This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases...
  32. ncbi Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1
    Gepke Visser
    Beatrix Children s Hospital, University Hospital, Groningen, The Netherlands
    Eur J Pediatr 161:S83-7. 2002
    ..In view of the uncertainty, prospective controlled trials seem warranted to clarify the indication for the use of granulocyte colony-stimulating factor in this disease...
  33. ncbi Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)
    Jan Peter Rake
    Department of Paediatrics, Beatrix Children s Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
    Eur J Pediatr 161:S112-9. 2002
    ..management of complications (directly) related to metabolic disturbances and complications which may develop with ageing and their follow-up. CONCLUSION: In this paper guidelines for the management of GSD I are presented...
  34. ncbi Increased levels of hemostatic proteins are independent of inflammation in glycogen storage disease type Ia
    Anne Marfaing-Koka
    , , Clamart, France
    J Pediatr Gastroenterol Nutr 37:566-70. 2003
    ..CONCLUSIONS: These results suggest that the hyperproteinemia of GSD-Ia (including hemostatic proteins) is attributable to hepatocyte dysfunction and not related to an inflammatory process...
  35. ncbi Absence of specific facial dysmorphy in glycogen storage disease type III
    Philippe Labrune
    Clin Dysmorphol 12:213. 2003
  36. ncbi Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene
    Celia J Angaroni
    Centro de Estudio de las Metabolopatias Congenitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Facultad de Ciencias Medicas, Universidad Nacional de Cordoba, Cordoba, Argentina
    Mol Genet Metab 88:96-9. 2006
    ..A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins...
  37. ncbi Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis
    Claire Colmant
    Prenat Diagn 26:750-2. 2006
  38. ncbi Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome
    Philippe Labrune
    Hum Mutat 20:399-401. 2002
  39. ncbi Successful pregnancy in a Crigler-Najjar type I patient treated by phototherapy and semimonthly albumin infusions
    Vincent Gajdos
    , , Clamart, France
    Gastroenterology 131:921-4. 2006
  40. ncbi Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study
    Vincent Gajdos
    Clin Chem 52:2313-4. 2006
  41. ncbi Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1
    Gepke Visser
    Beatrix Children s Hospital, Groningen, The Netherlands
    Eur J Pediatr 161:S120-3. 2002
    ....
  42. ncbi Comments on seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al
    François M Petit
    Haematologica 92:e80. 2007