Davit-Spraul A - Search Results

1

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C. Davit-Spraul A, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17. Mol Genet Metab. 2011. PMID: 21646031

2

CFC1 gene involvement in biliary atresia with polysplenia syndrome.

Davit-Spraul A, Baussan C, Hermeziu B, Bernard O, Jacquemin E. Davit-Spraul A, et al. J Pediatr Gastroenterol Nutr. 2008 Jan;46(1):111-2. doi: 10.1097/01.mpg.0000304465.60788.f4. J Pediatr Gastroenterol Nutr. 2008. PMID: 18162845

3

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

Davit-Spraul A, Costa C, Zater M, Habes D, Berthelot J, Broué P, Feillet F, Bernard O, Labrune P, Baussan C. Davit-Spraul A, et al. Mol Genet Metab. 2008 Aug;94(4):443-447. doi: 10.1016/j.ymgme.2008.05.003. Epub 2008 Jun 9. Mol Genet Metab. 2008. PMID: 18541450

4

Progressive familial intrahepatic cholestasis.

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Davit-Spraul A, et al. Orphanet J Rare Dis. 2009 Jan 8;4:1. doi: 10.1186/1750-1172-4-1. Orphanet J Rare Dis. 2009. PMID: 19133130 Free PMC article. Review.

5

Liver diseases related to MDR3 (ABCB4) gene deficiency.

Gonzales E, Davit-Spraul A, Baussan C, Buffet C, Maurice M, Jacquemin E. Gonzales E, et al. Front Biosci (Landmark Ed). 2009 Jan 1;14(11):4242-56. doi: 10.2741/3526. Front Biosci (Landmark Ed). 2009. PMID: 19273348 Free article. Review.

6

Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.

Gonzales E, Gerhardt MF, Fabre M, Setchell KD, Davit-Spraul A, Vincent I, Heubi JE, Bernard O, Jacquemin E. Gonzales E, et al. Gastroenterology. 2009 Oct;137(4):1310-1320.e1-3. doi: 10.1053/j.gastro.2009.07.043. Epub 2009 Jul 19. Gastroenterology. 2009. PMID: 19622360 Clinical Trial.

7

Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.

Jacquemin E, Malan V, Rio M, Davit-Spraul A, Cohen J, Landrieu P, Bernard O. Jacquemin E, et al. J Pediatr Gastroenterol Nutr. 2010 Apr;50(4):447-9. doi: 10.1097/MPG.0b013e3181cd2725. J Pediatr Gastroenterol Nutr. 2010. PMID: 20216097 No abstract available.

8

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.

Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E. Davit-Spraul A, et al. Hepatology. 2010 May;51(5):1645-55. doi: 10.1002/hep.23539. Hepatology. 2010. PMID: 20232290

9

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Davit-Spraul A, et al. Semin Liver Dis. 2010 May;30(2):134-46. doi: 10.1055/s-0030-1253223. Epub 2010 Apr 26. Semin Liver Dis. 2010. PMID: 20422496 Review.

10

Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2.

Gonzales E, Grosse B, Cassio D, Davit-Spraul A, Fabre M, Jacquemin E. Gonzales E, et al. J Hepatol. 2012 Sep;57(3):695-8. doi: 10.1016/j.jhep.2012.04.017. Epub 2012 May 16. J Hepatol. 2012. PMID: 22609309 Free article.

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