Microvillous Atrophy: Atypical Presentations
Perry, Ariane, Bensallah, Hayet, Martinez-Vinson, Christine, Berrebi, Dominique, Arbeille, Brigitte, Salomon, Julie, Goulet, Olivier, Marinier, Evelyne, Drunat, Séverine, Samson-Bouma, Marie-Elisabeth, Gérard, Bénédicte, Hugot, Jean-Pierre
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Published in Journal of pediatric gastroenterology and nutrition (01.12.2014)
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Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence
Okada, Tomoo, Miyashita, Michio, Fukuhara, Junji, Sugitani, Masahiko, Ueno, Takahiro, Samson-Bouma, Marie-Elisabeth, Aggerbeck, Lawrence P
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Published in Orphanet journal of rare diseases (21.11.2011)
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Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families
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Published in Journal of clinical lipidology (01.01.2019)
Published in Journal of clinical lipidology (01.01.2019)
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Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
Di Filippo, Mathilde, Moulin, Philippe, Roy, Pascal, Samson-Bouma, Marie Elisabeth, Collardeau-Frachon, Sophie, Chebel-Dumont, Sabrina, Peretti, Noël, Dumortier, Jérôme, Zoulim, Fabien, Fontanges, Thierry, Parini, Rossella, Rigoldi, Miriam, Furlan, Francesca, Mancini, Grazia, Bonnefont-Rousselot, Dominique, Bruckert, Eric, Schmitz, Jacques, Scoazec, Jean Yves, Charrière, Sybil, Villar-Fimbel, Sylvie, Gottrand, Frederic, Dubern, Béatrice, Doummar, Diane, Joly, Francesca, Liard-Meillon, Marie Elisabeth, Lachaux, Alain, Sassolas, Agnès
Published in Journal of hepatology (01.10.2014)
Published in Journal of hepatology (01.10.2014)
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Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents
Abifadel, Marianne, Pakradouni, Jihane, Collin, Matthieu, Samson-Bouma, Marie-Elisabeth, Varret, Mathilde, Rabès, Jean-Pierre, Boileau, Catherine
Published in Expert opinion on therapeutic patents (01.11.2010)
Published in Expert opinion on therapeutic patents (01.11.2010)
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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia
Di Filippo, Mathilde, Créhalet, Hervé, Samson-Bouma, Marie Elisabeth, Bonnet, Véronique, Aggerbeck, Lawrence P., Rabès, Jean-Pierre, Gottrand, Frederic, Luc, Gérald, Bozon, Dominique, Sassolas, Agnès
Published in Journal of lipid research (01.03.2012)
Published in Journal of lipid research (01.03.2012)
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Apolipoprotein B production and very low density lipoprotein secretion by calf liver slices
Gruffat-Mouty, D, Graulet, B, Durand, D, Samson-Bouma, M.E, Bauchart, D
Published in Journal of biochemistry (Tokyo) (01.07.1999)
Published in Journal of biochemistry (Tokyo) (01.07.1999)
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Absence of Microsomal Triglyceride Transfer Protein in Individuals with Abetalipoproteinemia
Wetterau, John R., Aggerbeck, Lawrence P., Bouma, Marie-Elisabeth, Eisenberg, Claude, Munck, Anne, Hermier, Michel, Schmitz, Jacques, Gay, Gerard, Rader, Daniel J., Gregg, Richard E.
Published in Science (American Association for the Advancement of Science) (06.11.1992)
Published in Science (American Association for the Advancement of Science) (06.11.1992)
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Isolation, culture and characterization of adult human hepatocytes from surgical liver biopsies
Ballet, F, Bouma, M E, Wang, S R, Amit, N, Marais, J, Infante, R
Published in Hepatology (Baltimore, Md.) (01.09.1984)
Published in Hepatology (Baltimore, Md.) (01.09.1984)
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Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease
Berriot-Varoqueaux, N, Dannoura, A H, Moreau, A, Verthier, N, Sassolas, A, Cadiot, G, Lachaux, A, Munck, A, Schmitz, J, Aggerbeck, L P, Samson-Bouma, M E
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2001)
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2001)
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Further cellular investigation of the human hepatoblastoma-derived cell line HepG2: morphology and immunocytochemical studies of hepatic-secreted proteins
Bouma, M E, Rogier, E, Verthier, N, Labarre, C, Feldmann, G
Published in In vitro cellular & developmental biology (01.03.1989)
Published in In vitro cellular & developmental biology (01.03.1989)
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Anderson's Disease: Exclusion of Apolipoprotein and Intracellular Lipid Transport Genes
Dannoura, A Hayssam, Berriot-Varoqueaux, Nathalie, Amati, Patricia, Abadie, Veronique, Verthier, Nicole, Schmitz, Jacques, Wetterau, John R, Samson-Bouma, Marie-Elisabeth, Aggerbeck, Lawrence P
Published in Arteriosclerosis, thrombosis, and vascular biology (01.10.1999)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.10.1999)
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Low Rate of Production of Apolipoproteins B100 and AI in 2 Patients With Anderson Disease (Chylomicron Retention Disease)
Ouguerram, Khadija, Zaïr, Yassine, Kasbi-Chadli, Fatima, Nazih, Hassane, Bligny, Dominique, Schmitz, Jacques, Aparicio, Thomas, Chétiveaux, Maud, Magot, Thierry, Aggerbeck, Laurence P, Samson-Bouma, Marie Elisabeth, Krempf, Michel
Published in Arteriosclerosis, thrombosis, and vascular biology (01.06.2012)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.06.2012)
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Ultrastructural immunogold labeling of lipid-laden enterocytes from patients with genetic malabsorption syndromes
Samson-Bouma, Marie-Elisabeth, Verthier, Nicole, Ginsel, Leo A, Feldmann, Gérard, Fransen, Jack AM, Aggerbeck, Lawrence P
Published in Biology of the cell (1996)
Published in Biology of the cell (1996)
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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia: Functional analysis of two new MTTP mutations
Di Filippo, Mathilde, Créhalet, Hervé, Samson-Bouma, Marie Elisabeth, Bonnet, Véronique, Aggerbeck, Lawrence P., Rabès, Jean-Pierre, Gottrand, Frederic, Luc, Gérald, Bozon, Dominique, Sassolas, Agnès
Published in Journal of lipid research (01.03.2012)
Published in Journal of lipid research (01.03.2012)
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Ultrastructural immunogold labeling of lipid-laden enterocytes from patients with genetic malabsorption syndromes
Samson-Bouma, Marie-Elisabeth, Verthier, Nicole, Ginsel, Leo A, Feldmann, Gérard, Fransen, Jack AM, Aggerbeck, Lawrence P
Published in Biology of the cell (1996)
Published in Biology of the cell (1996)
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A Novel Abetalipoproteinemia Genotype
Rehberg, Edward F., Samson-Bouma, Marie-Elisabeth, Kienzle, Bernadette, Blinderman, Laura, Jamil, Haris, Wetterau, John R., Aggerbeck, Lawrence P., Gordon, David A.
Published in The Journal of biological chemistry (22.11.1996)
Published in The Journal of biological chemistry (22.11.1996)
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Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities
Silvain, M, Bligny, D, Aparicio, T, Laforêt, P, Grodet, A, Peretti, N, Ménard, D, Djouadi, F, Jardel, C, Bégué, JM, Walker, F, Schmitz, J, Lachaux, A, Aggerbeck, LP, Samson-Bouma, ME
Published in Clinical genetics (01.12.2008)
Published in Clinical genetics (01.12.2008)
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Plasma lipoproteins in infantile visceral Leishmaniasis: deficiency of apolipoproteins A-I and A-II
Bekaert, Etienne D., Kallel, Rekaya, Bouma, Marie-Elisabeth, Lontie, Jean-François, Mebazaa, Abderraouf, Malmendier, Claude L., Ayrault-Jarrier, Marise
Published in Clinica chimica acta (29.09.1989)
Published in Clinica chimica acta (29.09.1989)
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