Literatura académica sobre el tema "Foie – Maladies rares"
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Artículos de revistas sobre el tema "Foie – Maladies rares"
Bastin, Jean y Fatima Djouadi. "Anomalies de la β-oxydation mitochondriale des acides gras". médecine/sciences 35, n.º 10 (octubre de 2019): 779–86. http://dx.doi.org/10.1051/medsci/2019156.
Texto completoDurand-Zaleski, I., B. Basli, F. Durand y N. Gault. "Élaboration d’une matrice d’évaluation multicritère de l’efficience de la télé-expertise pour les maladies rares de l’appareil digestif, du foie et du pancréas à partir d’avis d’experts : une enquête Delphi". Revue d'Épidémiologie et de Santé Publique 64 (mayo de 2016): S145. http://dx.doi.org/10.1016/j.respe.2016.03.076.
Texto completoStewart, Donna E. "Hepatic Adverse Reactions Associated with Nefazodone". Canadian Journal of Psychiatry 47, n.º 4 (mayo de 2002): 375–77. http://dx.doi.org/10.1177/070674370204700409.
Texto completoTHEBAULT, A., E. J. PEELER, A. G. MURRAY, E. BRUN, A. GIOVANINNI y M. A. THRUSH. "Application de la modélisation en santé des espèces aquacoles". INRAE Productions Animales 20, n.º 3 (7 de septiembre de 2007): 223–26. http://dx.doi.org/10.20870/productions-animales.2007.20.3.3460.
Texto completoKhadidia, Fall, Aminata Diop Nakoulima, Mbene Fall, Tagouthi Niang, Aita Seck, Meissa Ndew Seye, Demba Ba Idrissa y Ka Amadou Sidy. "Cystic fibrosis in black people: a case report from Main Hospital in Dakar". Batna Journal of Medical Sciences (BJMS) 8, n.º 2 (28 de diciembre de 2021): 165–68. http://dx.doi.org/10.48087/bjmscr.2021.8215.
Texto completoHarambat, Jérôme y Denis Morin. "Épidémiologie des maladies rénales chroniques en pédiatrie". médecine/sciences 39, n.º 3 (marzo de 2023): 209–18. http://dx.doi.org/10.1051/medsci/2023027.
Texto completoFall, Abdou Khadre, Thierry Daniel Tamsir Nesseim y Sokhna Diarra Ndour. "Déterminants Sociotechniques De L'élevage De La Volaille Au Sein Des Concessions Dans La Commune De Bambey, Sénégal". European Scientific Journal ESJ 17, n.º 40 (30 de noviembre de 2021): 158–77. http://dx.doi.org/10.19044/esj.2021.v17n40p158.
Texto completoHalkic, Abdelmoumene, Kianmanesh y Vuilleumier. "Blind Loop Syndrome". Swiss Surgery 8, n.º 5 (1 de octubre de 2002): 220–23. http://dx.doi.org/10.1024/1023-9332.8.5.220.
Texto completoShuaib, Yassir A., Stefan Niemann, Eltahir A. G. Khalil, Ulrich Schaible, Lothar H. Wieler, Mohammed A. Bakheit, Saad E. Mohamed-Noor, Mohamed A. Abdalla y Elvira Richter. "Mycobacterial infections in carcasses of ruminants slaughtered at the two slaughterhouses of Kassala, Sudan". Revue d’élevage et de médecine vétérinaire des pays tropicaux 70, n.º 4 (23 de abril de 2018): 131. http://dx.doi.org/10.19182/remvt.31530.
Texto completoBOICHARD, D., Aurélien CAPITAN, Coralie DANCHIN-BURGE y Cécile GROHS. "Avant-propos : Anomalies génétiques". INRA Productions Animales 29, n.º 5 (9 de enero de 2020): 293–96. http://dx.doi.org/10.20870/productions-animales.2016.29.5.2995.
Texto completoTesis sobre el tema "Foie – Maladies rares"
Petit, François Mickael Ferry Nicolas Labrune Philippe. "Aspects moléculaires des maladies rares du métabolisme hépatique à propos de la maladie de Crigler-Najjar /". [S.l.] : [s.n.], 2008. http://castore.univ-nantes.fr/castore/GetOAIRef?idDoc=50636.
Texto completoPetit, François Mickael. "Aspects moléculaires des maladies rares du métabolisme hépatique : à propos de la maladie de Crigler-Najjar". Nantes, 2008. https://archive.bu.univ-nantes.fr/pollux/show/show?id=5dcfa87e-f2cb-468d-8a87-767381d67fe9.
Texto completoCrigler-Najjar syndrome is a rare hepatic disorder due to partial or total deficiency of enzymatic activity of UGT1A1 involved in bilirubin conjugation. The disease manifests itself during the first hours of life by intense and persistent unconjugated hyperbilirubinaemia. Affected children are at high risk to develop brain non-reversible damages (kernicterus) due to bilirubin encephalopathy. Since 1952 and the description of this syndrome by Crigler and Najjar, molecular studies allowed to identify the gene. UGT1A1 gene is located on the terminal part of the chromosome 2 and is composed of 5 exons. Crigler-Najjar syndrome can take two forms: type I with complete and non-inducible enzymatic deficiency and type II with non-complete and inducible enzymatic deficiency. In this work, we have described new mutations responsible for Crigler-Najjar syndrome type I or II and we have analysed them in terms of phenotype-genotype correlations. Secondly we have studied two families with non-canonical presentation (first description of paternal isodisomy for chromosome 2, molecular characterisation of a large deletion in UGT1A1 gene), highlighting the importance of familial investigations in this syndrome. In the last part, we have molecularly characterised a founder effect for the mutation c. 1070A>G in the Tunisian population, in whom Crigler-Najjar syndrome is particularly frequent
Mareux, Elodie. "Pharmacothérapie ciblée des déficits en ABCB11". Electronic Thesis or Diss., université Paris-Saclay, 2021. http://www.theses.fr/2021UPASL083.
Texto completoABCB11/BSEP (Bile Salt Export Pump) is expressed at the canalicular membrane of hepatocytes. It ensures bile acids secretion into bile which is essential for biliary secretion. Nearly 400 variations of the ABCB11 gene have been identified and are associated with rare hepatobiliary diseases, the most severe being progressive familial intrahepatic cholestasis type 2 (PFIC2). The effectiveness of medical treatments is limited. Consequently, liver transplantation is required before adulthood for almost 2/3 of PFIC2 patients. In this context, the identification of alternative therapies is a major challenge.This thesis focuses on personalized therapeutic strategies to correct the pathological consequences of some ABCB11 variations identified in patients. The A257V, G562D and T463I variations of ABCB11 were studied by 3D molecular modelling. These variations were responsible for a defect in Abcb11 transport function. Ivacaftor (VX-770, Kalydeco®), a clinically approved cystic fibrosis treatment, corrects the activity defect of the three variants.Similar effects were observed with GLPG1837, SBC040 and SBC219, known as potentiators of CFTR (Cystic Fibrosis Transmembrane Conductance Regulator).From a combinatory therapy perspective, we also demonstrated the ability of these potentiators to correct the transport defect of the R1090C and R1090W variants, potential readthrough products of the R1090X nonsense variant. We also evaluated the ability of Elexacaftor (VX-445) and Tezacaftor (VX 661) correctors of CFTR. These correctors, alone or in combination, restored trafficking of the R1128C missense variant, leading to a significant increase in the transport function. Interestingly, the addition of potentiators abolishes this effect.Altogether, this thesis constitutes a proof of concept that molecules with high therapeutic potential can correct the molecular defects of ABCB11 variants. These treatments could increase the pharmacopoeia available for patients with ABCB11 deficiency and thus delay or even suppress the need for liver transplantation
Actas de conferencias sobre el tema "Foie – Maladies rares"
Oujdad, S., S. Zafad, H. El Attar y I. Ben Yahya. "Histiocytose langerhansienne de l’adulte : à propos d’un cas". En 66ème Congrès de la SFCO. Les Ulis, France: EDP Sciences, 2020. http://dx.doi.org/10.1051/sfco/20206603013.
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