Search Results - "Benichou, Bernard"

Optimising the IgG‐degrading enzyme treatment regimen for enhanced adeno‐associated virus transduction in the presence of neutralising antibodies by Ros‐Gañán, Irene, Hommel, Mirja, Trigueros‐Motos, Laia, Tamarit, Blanche, Rodríguez‐García, Estefanía, Salas, David, Pérez, Guiomar, Douar, Anne, Combal, Jean Philippe, Benichou, Bernard, Ferrer, Veronica, González‐Aseguinolaza, Gloria

“…Objective Pre‐existing neutralising antibodies (NAbs) to adeno‐associated viruses (AAVs) remain an impediment for systemically administered AAV‐mediated gene…”
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Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy by Gonzales, Emmanuel, Gardin, Antoine, Almes, Marion, Darmellah-Remil, Amaria, Seguin, Hanh, Mussini, Charlotte, Franchi-Abella, Stéphanie, Duché, Mathieu, Ackermann, Oanez, Thébaut, Alice, Habes, Dalila, Hermeziu, Bogdan, Lapalus, Martine, Falguières, Thomas, Combal, Jean-Philippe, Benichou, Bernard, Valero, Sonia, Davit-Spraul, Anne, Jacquemin, Emmanuel

“…Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disease caused by biallelic variations in ABCB4. Data reporting on the impact of…”
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Identification and characterization of a spinal muscular atrophy-determining gene by Lefebvre, Suzie, Bürglen, Lydie, Reboullet, Sophie, Clermont, Olivier, Burlet, Philippe, Viollet, Louis, Benichou, Bernard, Cruaud, Corinne, Millasseau, Philippe, Zeviani, Massimo, Le Paslier, Denis, Frézal, Jean, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold, Melki, Judith

“…Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive…”
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Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model by Weber, Nicholas D., Odriozola, Leticia, Martínez-García, Javier, Ferrer, Veronica, Douar, Anne, Bénichou, Bernard, González-Aseguinolaza, Gloria, Smerdou, Cristian

“…Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare monogenic disease caused by mutations in the ABCB4 gene, resulting in a reduction in…”
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Epidemiology, treatment and burden of Wilson disease in France: A 10-year analysis of the national health insurance database by Daniel-Robin, Thomas, Bénichou, Bernard, Leboucher, Claire, Blein, Cécile, Combal, Jean-Philippe

“…•1928 Wilson disease patients were found in the French health insurance database.•In the year after inclusion, 76% were hospitalised at least once for 5 days…”
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Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice by Bazo, Andrea, Lantero, Aquilino, Mauleón, Itsaso, Neri, Leire, Poms, Martin, Häberle, Johannes, Ricobaraza, Ana, Bénichou, Bernard, Combal, Jean-Philippe, Gonzalez-Aseguinolaza, Gloria, Aldabe, Rafael

“…Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder caused by mutations in the gene encoding argininosuccinate synthetase 1 (ASS1) that…”
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Liver Expression of a MiniATP7B Gene Results in Long‐Term Restoration of Copper Homeostasis in a Wilson Disease Model in Mice by Murillo, Oihana, Moreno, Daniel, Gazquez, Cristina, Barberia, Miren, Cenzano, Itziar, Navarro, Iñigo, Uriarte, Iker, Sebastian, Victor, Arruebo, Manuel, Ferrer, Veronica, Bénichou, Bernard, Combal, Jean Philippe, Prieto, Jesus, Hernandez‐Alcoceba, Ruben, Gonzalez Aseguinolaza, Gloria

“…Gene therapy with an adeno‐associated vector (AAV) serotype 8 encoding the human ATPase copper‐transporting beta polypeptide (ATP7B) complementary DNA (cDNA;…”
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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial by Wijburg, Frits A, Bénichou, Bernard, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, An Haack, Kristina, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma

“…This analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an…”
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THU-314 - A longitudinal study of epidemiology and treatment management of Wilson disease in France based on the French national claims database SNDS by Benichou, Bernard, Robin, Thomas Daniel, Combal, Jean Philippe, Leboucher, Claire

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A longitudinal study of epidemiology and treatment management of Wilson disease in France based on the French national claims database SNDS by Benichou, Bernard, Robin, Thomas Daniel, Combal, Jean Philippe, Leboucher, Claire

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Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease by Itier, Jean-Michel, Ret, Gwénaëlle, Viale, Sandra, Sweet, Lindsay, Bangari, Dinesh, Caron, Anne, Le-Gall, Françoise, Bénichou, Bernard, Leonard, John, Deleuze, Jean-François, Orsini, Cécile

“…Fabry disease, a rare X-linked α-galactosidase A deficiency, causes progressive lysosomal accumulation of globotriaosylceramide (GL-3) in a variety of cell…”
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Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial by Ramaswami, Uma, Bichet, Daniel G., Clarke, Lorne A., Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano M., An Haack, Kristina, Hopkin, Robert J., Mauer, Michael, Najafian, Behzad, Scott, C. Ronald, Shankar, Suma P., Thurberg, Beth L., Tøndel, Camilla, Tylki-Szymanska, Anna, Bénichou, Bernard, Wijburg, Frits A.

“…Fabry disease is a rare, X-linked, lifelong progressive lysosomal storage disorder. Severely deficient α-galactosidase A activity in males is associated with…”
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A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease by Bénichou, Bernard, Goyal, Sunita, Sung, Crystal, Norfleet, Andrea M., O’Brien, Fanny

“…Fabry disease results from a genetic deficiency of α-galactosidase A (αGAL) and the impaired catabolism of globotriasoylceramide (GL-3) and other…”
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Characteristics of patients with Wilson disease in the United States: An insurance claims database study by Daniel-Robin, Thomas, Kumar, Pradeep, Benichou, Bernard, Combal, Jean-Philippe

“…Wilson disease (WD) is a progressive, potentially fatal degenerative disease affecting the liver and central nervous system. Given its low prevalence,…”
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High value of 64Cu as a tool to evaluate the restoration of physiological copper excretion after gene therapy in Wilson’s disease by Murillo, Oihana, Collantes, Maria, Gazquez, Cristina, Moreno, Daniel, Hernandez-Alcoceba, Ruben, Barberia, Miren, Ecay, Margarita, Tamarit, Blanche, Douar, Anne, Ferrer, Veronica, Combal, Jean Philippe, Peñuelas, Ivan, Bénichou, Bernard, Gonzalez-Aseguinolaza, Gloria

“…Wilson’s disease (WD) is an inherited disorder of copper metabolism associated with mutations in ATP7B gene. We have shown that the administration of an…”
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WED-164 Interim safety results of the ongoing international phase I/II GATEWAY gene therapy trial with VTX-801 conducted in adult patients with Wilson disease by Sandahl, Thomas Damgaard, Lee, William M., Ala, Aftab, Gonzalez-Peralta, Regino P., Medici, Valentina, Askari, Fred, Rudnick, Sean, Lauer, Ulrich, Schmidt, Hartmut, Valero, Sonia, Gonzalez, Gloria, Combal, Jean Philippe, D'Antiga, Lorenzo, Benichou, Bernard, Schilsky, Michael

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Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease by Lubanda, Jean-Claude, Anijalg, Ene, Bzdúch, Vladimír, Thurberg, Beth L, Bénichou, Bernard, Tylki-Szymanska, Anna

“…Purpose: Fabry disease, a genetic deficiency of α-galactosidase A, is characterized by pathogenic cellular accumulation of globotriaosylceramide. During…”
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FRI-430-Preclinical validation of copper 64 as a translational tool for evaluating the pharmacodynamics of VTX-801 genen therapy in Wilson’s disease by González-Aseguinolaza, Gloria, Collantes, Maria, Ecay, Margarita, Moreno, Daniel, Murillo-Sauca, Oihana, Gazquez, Cristina, Ferrer, Veronica, Douar, Anne, Combal, Jean Philippe, Hernandez, Ruben, Peñuelas, Ivan, Benichou, Bernard

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De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies by Melki, Judith, Lefebvre, Suzie, Burglen, Lydie, Burlet, Philippe, Clermont, Olivier, Millasseau, Philippe, Reboullet, Sophie, Bénichou, Bernard, Zeviani, Massimo, Le Paslier, Denis, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold

“…Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies…”
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Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28 by Trochu, Jean-Noël, Kyndt, Florence, Schott, Jean-Jacques, Gueffet, Jean-Pierre, Probst, Vincent, Bénichou, Bernard, Le Marec, Hervé

“…OBJECTIVES The purpose of this study was to describe the phenotypic characteristics of an inherited myxomatous valvular dystrophy mapped to Xq28. BACKGROUND…”
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