Zobrazeno 1 - 10
of 133
pro vyhledávání: '"François Labarthe"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-18 (2024)
Abstract Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-rangi
Externí odkaz:
https://doaj.org/article/418157bc7b22490ea401ba3f29d54850
Autor:
Jean Issa, Pierre Lodewyckx, Hélène Blasco, Isabelle Benz‐de‐Bretagne, François Labarthe, Bruno Lefort
Publikováno v:
ESC Heart Failure, Vol 10, Iss 5, Pp 3114-3122 (2023)
Abstract Aims Heart failure in adults is characterized by reduction of long‐chain fatty acid oxidation in favour of carbohydrate metabolism. This adaptive phenomenon becomes maladaptive because energy conversion decreases and lipid toxic derivative
Externí odkaz:
https://doaj.org/article/1cb9bfec897849e386589cc56ef6be2f
Autor:
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later onse
Externí odkaz:
https://doaj.org/article/d0db1ae2428d44aaa88b5dbf853effc1
Autor:
Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, Philippe Meunier, François Maillot, François Labarthe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Background Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe microcephaly, intellectual disa
Externí odkaz:
https://doaj.org/article/1747969e84f247b89877c0075e607b4e
Autor:
Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expectancy, and a successf
Externí odkaz:
https://doaj.org/article/8505fbb97e2847ea9c50de0114925eb6
Autor:
Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, David Cheillan
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 6 (2023)
Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiol
Externí odkaz:
https://doaj.org/article/91e0d434acbd4839ab25ed9955b28bf2
Autor:
Sophie Denamur, Guy Touati, Stéphane Debelleix, Léna Damaj, Magalie Barth, Marine Tardieu, Magali Gorce, Pierre Broué, Didier Lacombe, François Labarthe
Publikováno v:
ERJ Open Research, Vol 8, Iss 1 (2021)
Externí odkaz:
https://doaj.org/article/d14b07174c59465c9b0094372591d219
Autor:
Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, Pascal Perrin, Pierre Rouyer, Thomas Josse, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loic De Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Rosa-Maria Rodriguez-Guéant, François Feillet, Jean-Louis Guéant, Fares Namour
Publikováno v:
EBioMedicine, Vol 51, Iss , Pp - (2020)
Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichme
Externí odkaz:
https://doaj.org/article/f4615d7cffba4666a72a02f624b5ba23
Autor:
René Wintjens, Dominique Bozon, Khaldia Belabbas, Félicien MBou, Jean-Philippe Girardet, Patrick Tounian, Mathilde Jolly, Franck Boccara, Ariel Cohen, Alexandra Karsenty, Béatrice Dubern, Jean-Claude Carel, Ahlam Azar-Kolakez, François Feillet, François Labarthe, Anne-Marie Colin Gorsky, Alice Horovitz, Catherine Tamarindi, Pierre Kieffer, Anne Lienhardt, Olivier Lascols, Mathilde Di Filippo, Fabienne Dufernez
Publikováno v:
Journal of Lipid Research, Vol 57, Iss 3, Pp 482-491 (2016)
Autosomal dominant hypercholesterolemia (ADH) is a human disorder characterized phenotypically by isolated high-cholesterol levels. Mutations in the low density lipoprotein receptor (LDLR), APOB, and proprotein convertase subtilisin/kexin type 9 (PCS
Externí odkaz:
https://doaj.org/article/9302fb48e9784280aff06c74971d3e59
Autor:
Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Nancy Tremblay, Luc Vachon, Josée Villeneuve
Publikováno v:
Cell Reports, Vol 13, Iss 5, Pp 981-989 (2015)
A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process. To gain insight into the systemic, biochemical consequ
Externí odkaz:
https://doaj.org/article/9a62c7ac67234db5a1b82fa740ce6d1e