Anne Davit-Spraul

Summary

Country: France

Publications

  1. doi request reprint Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene
    Anne Davit-Spraul
    Biochemistry Laboratory, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Universite Paris Sud 11, Le Kremlin Bicetre, France Electronic address
    Mol Genet Metab 113:225-9. 2014
  2. doi request reprint Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patients
    Anne Davit-Spraul
    Biochemistry Unit, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
    J Chromatogr Sci 50:446-9. 2012
  3. pmc Progressive familial intrahepatic cholestasis
    Anne Davit-Spraul
    Biochemistry, Bicetre Hospital, University of Paris Sud XI, Assistance Publique Hopitaux de Paris, Paris, France
    Orphanet J Rare Dis 4:1. 2009
  4. doi request reprint Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies
    Anne Davit-Spraul
    Biochemistry Unit, CHU Bicetre, Assistance Publique Hopitaux de Paris, France
    Mol Genet Metab 104:137-43. 2011
  5. doi request reprint The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects
    Anne Davit-Spraul
    Biochemistry, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
    Semin Liver Dis 30:134-46. 2010
  6. doi request reprint ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history
    Anne Davit-Spraul
    Biochemistry Unit, Hopital Bicetre, Assistance Publique, Hopitaux de Paris, Paris, France
    Hepatology 51:1645-55. 2010
  7. doi request reprint Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2
    Emmanuel Gonzales
    Pediatric Hepatology and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre Universitary Hospital, Faculty of Medicine Paris Sud, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
    J Hepatol 57:695-8. 2012
  8. doi request reprint Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations
    Anne Davit-Spraul
    Laboratoire de Biochimie, CHU de Bicetre, Assistance Publique Hopitaux de Paris, 78, rue du General Leclerc, 94275 Le Kremlin Bicetre cedex, France et Université Paris XI, IFR Bicêtre, France
    Mol Genet Metab 94:443-7. 2008
  9. doi request reprint Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy
    Emmanuel Gonzales
    Pediatric Hepatology Unit, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Paris, France
    Gastroenterology 137:1310-1320.e1-3. 2009
  10. ncbi request reprint Increase in liver antioxidant enzyme activities in non-alcoholic fatty liver disease
    Gabriel Perlemuter
    Service d Hepato Gastroenterologie, Hopital Antoine Beclere, AP HP, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Liver Int 25:946-53. 2005

Collaborators

Detail Information

Publications15

  1. doi request reprint Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene
    Anne Davit-Spraul
    Biochemistry Laboratory, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Universite Paris Sud 11, Le Kremlin Bicetre, France Electronic address
    Mol Genet Metab 113:225-9. 2014
    ..Transcript analysis in liver tissue is the best way to determine whether the variations predicted to affect splicing are deleterious or not...
  2. doi request reprint Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patients
    Anne Davit-Spraul
    Biochemistry Unit, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
    J Chromatogr Sci 50:446-9. 2012
    ..The method was linear in the concentration range of 0.75-150 µM with r ≥ 0.998. Thus, this method is suitable for follow-up of patients treated with NTBC, because the current therapeutical concentrations range from 20 to 120 µM...
  3. pmc Progressive familial intrahepatic cholestasis
    Anne Davit-Spraul
    Biochemistry, Bicetre Hospital, University of Paris Sud XI, Assistance Publique Hopitaux de Paris, Paris, France
    Orphanet J Rare Dis 4:1. 2009
    ..Hepatocyte transplantation, gene therapy or specific targeted pharmacotherapy may represent alternative treatments in the future...
  4. doi request reprint Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies
    Anne Davit-Spraul
    Biochemistry Unit, CHU Bicetre, Assistance Publique Hopitaux de Paris, France
    Mol Genet Metab 104:137-43. 2011
    ..Molecular analysis of GSD VI or IX genes allows to confirm diagnosis suspected on the basis of enzymatic analysis and to establish diagnosis and avoid liver biopsy when enzymatic studies are not informative in blood cells...
  5. doi request reprint The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects
    Anne Davit-Spraul
    Biochemistry, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
    Semin Liver Dis 30:134-46. 2010
    ..The latter should be good candidates for a targeted pharmacologic approach and/or to cell therapy in the future...
  6. doi request reprint ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history
    Anne Davit-Spraul
    Biochemistry Unit, Hopital Bicetre, Assistance Publique, Hopitaux de Paris, Paris, France
    Hepatology 51:1645-55. 2010
    ..Combination of UDCA, BD, and liver transplantation allowed 87% of normal-GGT PFIC patients to be alive at a median age of 10.5 years (1-36), half of them without liver transplantation...
  7. doi request reprint Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2
    Emmanuel Gonzales
    Pediatric Hepatology and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre Universitary Hospital, Faculty of Medicine Paris Sud, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
    J Hepatol 57:695-8. 2012
    ..After an in vitro study in a hepatocellular polarized line, we tested 4-PB treatment in a child with a homozygous p.T1210P BSEP mutation...
  8. doi request reprint Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations
    Anne Davit-Spraul
    Laboratoire de Biochimie, CHU de Bicetre, Assistance Publique Hopitaux de Paris, 78, rue du General Leclerc, 94275 Le Kremlin Bicetre cedex, France et Université Paris XI, IFR Bicêtre, France
    Mol Genet Metab 94:443-7. 2008
    ..R57P), c.839C>A (p.A280P) and c.932T>C (p.L311P)). Our strategy allows to diagnose 75% of HFI patients using restriction enzymatic analysis and to enlarge the diagnosis to 97% of HFI patients when associated with direct sequencing...
  9. doi request reprint Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy
    Emmanuel Gonzales
    Pediatric Hepatology Unit, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Paris, France
    Gastroenterology 137:1310-1320.e1-3. 2009
    ..The aim of the study was to evaluate the long-term effectiveness and safety of cholic acid (CA) therapy...
  10. ncbi request reprint Increase in liver antioxidant enzyme activities in non-alcoholic fatty liver disease
    Gabriel Perlemuter
    Service d Hepato Gastroenterologie, Hopital Antoine Beclere, AP HP, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Liver Int 25:946-53. 2005
    ....
  11. ncbi request reprint CFC1 gene involvement in biliary atresia with polysplenia syndrome
    Anne Davit-Spraul
    Biochemistry Laboratory, France
    J Pediatr Gastroenterol Nutr 46:111-2. 2008
    ..These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome...
  12. doi request reprint NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations
    Anne Davit-Spraul
    Biochemistry Laboratory, Bicetre Hospital, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Paris, France
    Clin Res Hepatol Gastroenterol 36:569-73. 2012
    ..No NR1H4 mutation was found in PFIC patients. In one woman with ICP/DIC, a NR1H4 heterozygous variant (c.-1G>T) was found. This suggests that a NR1H4 mutation is not or rarely involved in hepatocellular cholestasis of unknown cause...
  13. ncbi request reprint Liver diseases related to MDR3 (ABCB4) gene deficiency
    Emmanuel Gonzales
    Pediatric Hepatology and National Reference Centre for Biliary Atresia, Bicetre Hospital, University of Paris South 11, AP HP, Paris, France
    Front Biosci (Landmark Ed) 14:4242-56. 2009
    ..Some patients with MDR3 deficiency may benefit from ursodeoxycholic acid therapy and could be good candidates to a targeted pharmacological approach and/or to cell therapy in the future...
  14. doi request reprint Improvement of hepatocyte transplantation efficiency in the mdr2-/- mouse model by glyceryl trinitrate
    Lyes Boudechiche
    1 INSERM U 972, Paul Brousse Hospital, Villejuif, France 2 Paris Sud University, Orsay, France 3 Department of Minimally Invasive Surgery, Antoine Beclere Hospital, AP HP, Clamart, France 4 Department of Pediatric Surgery, Bicetre Hospital, AP HP, Kremlin Bicetre, France 5 Department of Biochemistry, Bicetre Hospital, AP HP, Kremlin Bicetre, France
    Transplantation 99:36-40. 2015
    ..Therefore, we investigated the effect of glyceryl trinitrate (GTN) on the efficacy of cell engraftment and on liver repopulation in the mdr2-knockout mouse, a model for progressive familial intrahepatic cholestasis type 3...
  15. doi request reprint MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease
    Muriel Girard
    Department of Pediatric Gastroenterology and Hepatology, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Université Paris Descartes Sorbonne Cité, Paris, France INSERM, UMR 781, Université Paris Descartes Sorbonne Cité, Institut Imagine, Paris, France
    Hepatology 60:301-10. 2014
    ..Interruption of enterohepatic BA cycling after partial external biliary diversion or graft removal proved the most effective to ensure long-term remission...