Christiane Baussan
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Explore the profile of Christiane Baussan including associated specialties, affiliations and a list of published articles.
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14
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479
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Recent Articles
1.
Rhouma F, Azzouz H, Petit F, Ben Khelifa M, Ben Chehida A, Nasrallah F, et al.
Mol Biol Rep
. 2013 May;
40(7):4197-202.
PMID: 23649758
Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The disease...
2.
Billot S, Herve D, Akman H, Froissart R, Baussan C, Claeys K, et al.
J Neurol Sci
. 2012 Nov;
324(1-2):179-82.
PMID: 23146612
Adult polyglucosan body disease (APBD) is a metabolic disorder usually caused by glycogen branching enzyme (GBE) deficiency. APBD associates progressive walking difficulties, bladder dysfunction and, in about 50% of the...
3.
Valayannopoulos V, Bajolle F, Arnoux J, Dubois S, Sannier N, Baussan C, et al.
Pediatr Res
. 2011 Aug;
70(6):638-41.
PMID: 21857385
Glycogen storage disease type III (GSD III) due to debranching enzyme deficiency presenting usually with hepatomegaly and hypoglycemia may be responsible for severe cardiomyopathy which is often fatal. Current treatment...
4.
Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, et al.
Mol Genet Metab
. 2011 Jun;
104(1-2):137-43.
PMID: 21646031
Glycogen storage disease (GSD) due to a deficient hepatic phosphorylase system defines a genetically heterogeneous group of disorders that mainly manifests in children. We investigated 45 unrelated children in whom...
5.
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E
Semin Liver Dis
. 2010 Apr;
30(2):134-46.
PMID: 20422496
Class III multidrug resistance P-glycoproteins, Mdr2 in mice and MDR3 in human, are canalicular phospholipid translocators involved in biliary phospholipid (phosphatidylcholine) excretion. The role of an ABCB4 gene defect in...
6.
Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, et al.
Hepatology
. 2010 Mar;
51(5):1645-55.
PMID: 20232290
Unlabelled: Progressive familial intrahepatic cholestasis (PFIC) types 1 and 2 are characterized by normal serum gamma-glutamyl transferase (GGT) activity and are due to mutations in ATP8B1 (encoding FIC1) and ABCB11...
7.
Gonzales E, Davit-Spraul A, Baussan C, Buffet C, Maurice M, Jacquemin E
Front Biosci (Landmark Ed)
. 2009 Mar;
14(11):4242-56.
PMID: 19273348
Class III multidrug resistance P-glycoproteins, mdr2 in mice and MDR3 in human, are canalicular phospholipid translocators involved in biliary phospholipid (phosphatidylcholine) excretion.The role of a MDR3 (ABCB4) gene defect in...
8.
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E
Orphanet J Rare Dis
. 2009 Jan;
4:1.
PMID: 19133130
Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains...
9.
Davit-Spraul A, Costa C, Zater M, Habes D, Berthelot J, Broue P, et al.
Mol Genet Metab
. 2008 Jun;
94(4):443-447.
PMID: 18541450
We investigated the molecular basis of hereditary fructose intolerance (HFI) in 160 patients from 92 families by means of a PCR-based mutation screening strategy, consisting of restriction enzyme digestion and...
10.
Davit-Spraul A, Baussan C, Hermeziu B, Bernard O, Jacquemin E
J Pediatr Gastroenterol Nutr
. 2007 Dec;
46(1):111-2.
PMID: 18162845
The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher...