Neurological manifestations in adults with phenylketonuria: new cases and review of the literature by Jaulent, Paul, Charriere, Sybil, Feillet, François, Douillard, Claire, Fouilhoux, Alain, Thobois, Stéphane

Get full text

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia by 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

Get full text

The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia by Gallo, Antonio, Pérez de Isla, Leopoldo, Charrière, Sybil, Vimont, Alexandre, Alonso, Rodrigo, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, José L., Zambón, Daniel, Moulin, Philippe, Bruckert, Eric, Mata, Pedro, Béliard, Sophie, Angoulvant, Denis, Beliard, Sophie, Boccara, Franck, Bruckert, Eric, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di Filippo, Mathilde, Ducluzeau, Pierre Henri, Dulong, Sonia, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, Giral, Philippe, Gonbert, Sophie, Hankard, Regis, Inamo, Jocelyn, Kalmykova, Olga, Krempf, Michel, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnes, Pradignac, Alain, Rabes, Jean Pierre, Rigalleau, Vincent, Schiele, François, Sultan, Ariane, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cecile, Ziegler, Olivier, Aguado, Rocío, Alonso, Rodrigo, Álvarez-Baños, Ma Pilar, Argüeso, Rosa, Arrieta, Francisco, Barba, Miguel Ángel, Casañas, Marta, Cepeda, José María, De Andrés, Raimundo, Díaz-Soto, Gonzalo, Díaz-Diaz, Jose Luis, Dieguez, Marta, Faedo, Ceferino, Fuentes, Francisco, Garrido, Juan A., González, Aurora, González-Bustos, Pablo, Mañas, Ma Dolores, Mata, Pedro, Mauri, Marta, Mediavilla, Juan Diego, Michán, Alfredo, Miramontes, Pablo, Muñiz, Ovidio, Pérez, Leire, De Isla, Leopoldo Perez, Pintó, Xavier, Romero, Manuel J., Rubio, Patricia, Sánchez Muñoz-Torrero, Juan F., Vidal-Pardo, Jose I., Zambón, Daniel

Get full text

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia by Di Filippo, Mathilde, Collardeau Frachon, Sophie, Janin, Alexandre, Rajan, Sujith, Marmontel, Oriane, Decourt, Charlotte, Rubio, Amandine, Nony, Séverine, Dumont, Sabrina, Cuerq, Charlotte, Charrière, Sybil, Moulin, Philippe, Lachaux, Alain, Hussain, M. Mahmood, Bozon, Dominique, Peretti, Noël

Get full text

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia by Abou Khalil, Yara, Marmontel, Oriane, Ferrières, Jean, Paillard, François, Yelnik, Cécile, Carreau, Valérie, Charrière, Sybil, Bruckert, Eric, Gallo, Antonio, Giral, Philippe, Philippi, Anne, Bluteau, Olivier, Boileau, Catherine, Abifadel, Marianne, Di-Filippo, Mathilde, Carrié, Alain, Rabès, Jean-Pierre, Varret, Mathilde

Get full text

When discordant insulin and C-peptide levels lead to a medical diagnosis in a patient with transient hypoglycemia: Varying degrees of interference of insulin-antibody complexes on... by Teoli, Jordan, Chikh, Karim, Jouini-Bouhamri, Ryme, Charriere, Sybil, Fabien, Nicole, Raverot, Véronique

Get full text

Guidance for the diagnosis and treatment of hypolipidemia disorders by Bredefeld, Cindy, Hussain, M. Mahmood, Averna, Maurizio, Black, Dennis D., Brin, Mitchell F., Burnett, John R., Charrière, Sybil, Cuerq, Charlotte, Davidson, Nicholas O., Deckelbaum, Richard J., Goldberg, Ira J., Granot, Esther, Hegele, Robert A., Ishibashi, Shun, Karmally, Wahida, Levy, Emile, Moulin, Philippe, Okazaki, Hiroaki, Poinsot, Pierre, Rader, Daniel J., Takahashi, Manabu, Tarugi, Patrizia, Traber, Maret G., Di Filippo, Mathilde, Peretti, Noel

Get full text

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry by Béliard, Sophie, Boccara, Franck, Cariou, Bertrand, Carrié, Alain, Collet, Xavier, Farnier, Michel, Ferrières, Jean, Krempf, Michael, Peretti, Noël, Rabès, Jean-Pierre, Varret, Mathilde, Vimont, Alexandre, Charrière, Sybil, Bruckert, Eric, Angoulvant, D., Béliard, S., Benlian, P., Boileau, C., Boccara, F., Bruckert, E., Cariou, B., Carreau, V., Carrié, A., Charrière, S., Di Filippo, M., Ducluzeau, P.H., Dulong, S., Durlach, V., Farnier, M., Ferrari, E., Ferrières, J., Gallo, A., Girardet, J.P., Hankard, R., Krempf, M., Lalau, J.D., Lefort, B., Lemale, J., Moulin, P., Paillard, F., Peretti, N., Pradignac, A., Pucheu, Y., Rabès, J.P., Saheb, S., Sultan, A., Tounian, P., Valéro, R., Varret, M., Vergès, B., Yelnik, C., Ziegler, O.

Get full text

Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease by Cuerq, Charlotte, Henin, Emilie, Restier, Lioara, Blond, Emilie, Drai, Jocelyne, Marçais, Christophe, Di Filippo, Mathilde, Laveille, Christian, Michalski, Marie-Caroline, Poinsot, Pierre, Caussy, Cyrielle, Sassolas, Agnès, Moulin, Philippe, Reboul, Emmanuelle, Charriere, Sybil, Levy, Emile, Lachaux, Alain, Peretti, Noël

Get full text

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia by Ghaleb, Youmna, Elbitar, Sandy, Philippi, Anne, El Khoury, Petra, Azar, Yara, Andrianirina, Miangaly, Loste, Alexia, Abou-Khalil, Yara, Nicolas, Gaël, Le Borgne, Marie, Moulin, Philippe, Di-Filippo, Mathilde, Charrière, Sybil, Farnier, Michel, Yelnick, Cécile, Carreau, Valérie, Ferrières, Jean, Lecerf, Jean-Michel, Derksen, Alexa, Bernard, Geneviève, Gauthier, Marie-Soleil, Coulombe, Benoit, Lütjohann, Dieter, Fin, Bertrand, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Rabès, Jean-Pierre, Boileau, Catherine, Abifadel, Marianne, Varret, Mathilde

Get full text

Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France – A nationwide study of health insurance cla... by Douillard, Claire, Arnoux, Jean-Baptiste, Bouée, Stéphane, Jacob, Christian, Schneider, Kim Maren, Theil, Julia, Charrière, Sybil, Maillot, Francois

Get full text

Higher prevalence of incidental findings identified upon coronary calcium score assessment in type 2 and type 3 diabetes versus type 1 diabetes by Gaudillière, Mélanie, Marsot, Charlotte, Balaire, Laetitia, Groisne, Laure, Moret, Myriam, Villar-Fimbel, Sylvie, Douek, Philippe, Moulin, Philippe, Charrière, Sybil

Get full text

Silent myocardial infarction fatty scars detected by coronary calcium score CT scan in diabetic patients without history of coronary heart disease by Boccalini, Sara, Teulade, Marie, Paquet, Emilie, Si-Mohamed, Salim, Rapallo, Fabio, Moreau-Triby, Caroline, Charrière, Sybil, Mewton, Nathan, Boussel, Loic, Bergerot, Cyrille, Douek, Philippe, Moulin, Philippe

Get full text

Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients – A nationwide study of health insurance claims data... by Charrière, Sybil, Maillot, Francois, Bouée, Stéphane, Douillard, Claire, Jacob, Christian, Schneider, Kim Maren, Theil, Julia, Arnoux, Jean-Baptiste

Get full text

Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data by Arnoux, Jean-Baptiste, Douillard, Claire, Maillot, Francois, Bouée, Stéphane, Jacob, Christian, Schneider, Kim Maren, Theil, Julia, Charrière, Sybil

Get full text

PCSK9 post-transcriptional regulation: Role of a 3′UTR microRNA-binding site variant in linkage disequilibrium with c.1420G by Decourt, Charlotte, Janin, Alexandre, Moindrot, Marine, Chatron, Nicolas, Nony, Séverine, Muntaner, Manon, Dumont, Sabrina, Divry, Eléonore, Dauchet, Luc, Meirhaeghe, Aline, Marmontel, Oriane, Bardel, Claire, Charrière, Sybil, Cariou, Bertrand, Moulin, Philippe, Di Filippo, Mathilde

Get full text

An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site by Caussy, Cyrielle, Charrière, Sybil, Marçais, Christophe, Di Filippo, Mathilde, Sassolas, Agnès, Delay, Mireille, Euthine, Vanessa, Jalabert, Audrey, Lefai, Etienne, Rome, Sophie, Moulin, Philippe

Get full text

Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia by Marmontel, Oriane, Di Filippo, Mathilde, Marcais, Christophe, Nony, Séverine, Dumoux, Marjorie, Serveaux-Dancer, Marine, Caussy, Cyrielle, Charrière, Sybil, Moulin, Philippe

Get full text

Minigene splicing reporter assay: An interesting and useful approach for genetic diagnosis in familial hypobetalipoproteinemia by Henry, Zoé, Janin, Alexandre, Nony, Severine, Marmontel, Oriane, Marrec, Marie, Charriere, Sybil, Moulin, Philippe, Cariou, Bertrand, Di Filippo, Mathilde

Get full text

Genetic burden in the regulation of TG metabolism is associated with the risk of acute pancreatitis but not with CAC score in multifactorial chylomicronemia syndrome by Vullien, Carla, Collin-Chavagnac, Delphine, Dybal, Elisa, Di Filippo, Mathilde, Marmontel, Oriane, Moret, Myriam, Groisne, Laure, Moulin, Philippe, Charriere, Sybil

Get full text