Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Circulating acylcarnitine profile in human heart failure: a surrogate of fatty acid metabolic dysregulation in mitochondria and beyond
Ruiz, Matthieu, Labarthe, François, Fortier, Annik, Bouchard, Bertrand, Thompson Legault, Julie, Bolduc, Virginie, Rigal, Odile, Chen, Jane, Ducharme, Anique, Crawford, Peter A., Tardif, Jean-Claude, Des Rosiers, Christine
Published in American journal of physiology. Heart and circulatory physiology (01.10.2017)
Published in American journal of physiology. Heart and circulatory physiology (01.10.2017)
Get full text
Journal Article
Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France
Maler, Victor, Goetz, Violette, Tardieu, Marine, Khalil, Abderrahmane El, Alili, Jean Meidi, Meunier, Philippe, Maillot, François, Labarthe, François
Published in Orphanet journal of rare diseases (08.06.2023)
Published in Orphanet journal of rare diseases (08.06.2023)
Get full text
Journal Article
The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks
Dos Santos, Yann, Trefz, Friedrich, Giżewska, Maria, van Wegberg, Annemiek M.J., Lefort, Bruno, Labarthe, François, van Spronsen, Francjan, Maillot, François
Published in Orphanet journal of rare diseases (02.04.2025)
Published in Orphanet journal of rare diseases (02.04.2025)
Get full text
Journal Article
Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study
Renous, Anne-Sophie, Damaj, Lena, Gorce, Magali, Barth, Magalie, Bedu, Antoine, Sacaze, Elise, Lamireau, Delphine, Laroche-Raynaud, Cécile, Pasquier, Laurent, Maakaroun-Vermesse, Zoha, Tardieu, Marine, Labarthe, François
Published in Orphanet journal of rare diseases (31.03.2025)
Published in Orphanet journal of rare diseases (31.03.2025)
Get full text
Journal Article
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report
Kishnani, Priya S., Kronn, David, Brassier, Anaïs, Broomfield, Alexander, Davison, James, Hahn, Si Houn, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Pichard, Samia, Prakalapakorn, S. Grace, Haack, Kristina An, Kittner, Barbara, Meng, Xianzhang, Sparks, Susan, Wilson, Catherine, Zaher, Atef, Chien, Yin-Hsiu
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
Get full text
Journal Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Freihuber, Cécile, Dahmani-Rabehi, Bahia, Brassier, Anaïs, Broué, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, François, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie T., Héron, Bénédicte
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
Get full text
Journal Article
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa
Kronn, David, Davison, James, Broomfield, Alexander, Brassier, Anaïs, Labarthe, François, Hahn, Si Houn, Kumada, Satoko, Ohki, Hirotaka, Prakalapakorn, Sasapin Grace, Wilson, Catherine, Haack, Kristina An, Huynh-ba, Olivier, Richards, Susan, Sparks, Susan, Tammireddy, Swathi, Zhou, Tianyue, Chien, Yin-Hsiu, Kishnani, Priya S.
Published in The Journal of pediatrics (01.10.2025)
Published in The Journal of pediatrics (01.10.2025)
Get full text
Journal Article
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
Civit, Antoine, Gueguen, Paul, Blasco, Helene, Benz-de-Bretagne, Isabelle, Lebredonchel, Élodie, Dingeo, Giulia, Jeanne, Médéric, Rouxel, Sophie, Tardieu, Marine, Raynor, Alexandre, Labarthe, François, Bruneel, Arnaud, Goetz, Violette
Published in Clinica chimica acta (01.11.2023)
Published in Clinica chimica acta (01.11.2023)
Get full text
Journal Article
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey
Genevaz, Delphine, Arnoux, Armelle, Marcel, Catherine, Brassier, Anaïs, Pichard, Samia, Feillet, François, Labarthe, François, Chabrol, Brigitte, Berger, Marc, Lapointe, Anne-Sophie, Frigout, Yvann, Héron, Bénédicte, Chatellier, Gilles, Belmatoug, Nadia
Published in Orphanet journal of rare diseases (21.02.2022)
Published in Orphanet journal of rare diseases (21.02.2022)
Get full text
Journal Article
The abnormal accumulation of heparan sulfate in patients with mucopolysaccharidosis prevents the elastolytic activity of cathepsin V
Chazeirat, Thibault, Denamur, Sophie, Bojarski, Krzysztof K., Andrault, Pierre-Marie, Sizaret, Damien, Zhang, Fuming, Saidi, Ahlame, Tardieu, Marine, Linhardt, Robert J., Labarthe, François, Brömme, Dieter, Samsonov, Sergey A., Lalmanach, Gilles, Lecaille, Fabien
Published in Carbohydrate polymers (01.02.2021)
Published in Carbohydrate polymers (01.02.2021)
Get full text
Journal Article
Binding of heparan sulfate to human cystatin C modulates inhibition of cathepsin L: Putative consequences in mucopolysaccharidosis
Denamur, Sophie, Chazeirat, Thibault, Maszota-Zieleniak, Martyna, Vivès, Romain R., Saidi, Ahlame, Zhang, Fuming, Linhardt, Robert J., Labarthe, François, Samsonov, Sergey A., Lalmanach, Gilles, Lecaille, Fabien
Published in Carbohydrate polymers (01.10.2022)
Published in Carbohydrate polymers (01.10.2022)
Get full text
Journal Article
Remodeling of lipid landscape in high fat fed very-long chain acyl-CoA dehydrogenase null mice favors pro-arrhythmic polyunsaturated fatty acids and their downstream metabolites
Lefort, Bruno, Gélinas, Roselle, Forest, Anik, Bouchard, Bertrand, Daneault, Caroline, Robillard Frayne, Isabelle, Roy, Jérôme, Oger, Camille, Greffard, Karine, Galano, Jean-Marie, Durand, Thierry, Labarthe, François, Bilodeau, Jean-François, Ruiz, Matthieu, Des Rosiers, Christine
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2023)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2023)
Get full text
Journal Article
Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis
Goetz, Violette, Lefort, Bruno, Barth, Magalie, Gueguen, Naïg, Bris, Céline, Blanchard, Emmanuelle, Benz‐de Bretagne, Isabelle, Blasco, Hélène, Tardieu, Marine, Labarthe, François
Published in ESC Heart Failure (01.08.2025)
Published in ESC Heart Failure (01.08.2025)
Get full text
Journal Article
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up
Gorce, Magali, Lebigot, Elise, Arion, Alina, Brassier, Anaïs, Cano, Aline, De Lonlay, Pascale, Feillet, François, Gay, Claire, Labarthe, François, Nassogne, Marie‐Cécile, Roche, Sandrine, Roubertie, Agathe, Sacaze, Elise, Touati, Guy, Broué, Pierre
Published in Journal of inherited metabolic disease (01.03.2022)
Published in Journal of inherited metabolic disease (01.03.2022)
Get full text
Journal Article
Long-Chain Acylcarnitines Regulate the hERG Channel
Ferro, Fabio, Ouillé, Aude, Tran, Truong-An, Fontanaud, Pierre, Bois, Patrick, Babuty, Dominique, Labarthe, François, Le Guennec, Jean-Yves
Published in PloS one (25.07.2012)
Published in PloS one (25.07.2012)
Get full text
Journal Article
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Published in Orphanet journal of rare diseases (07.06.2012)
Published in Orphanet journal of rare diseases (07.06.2012)
Get full text
Journal Article
Long-term liver disease in methylmalonic and propionic acidemias
Imbard, Apolline, Garcia Segarra, Nuria, Tardieu, Marine, Broué, Pierre, Bouchereau, Juliette, Pichard, Samia, de Baulny, Hélène Ogier, Slama, Abdelhamid, Mussini, Charlotte, Touati, Guy, Danjoux, Marie, Gaignard, Pauline, Vogel, Hannes, Labarthe, François, Schiff, Manuel, Benoist, Jean-François
Published in Molecular genetics and metabolism (01.04.2018)
Published in Molecular genetics and metabolism (01.04.2018)
Get full text
Journal Article
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts
Lefort, Bruno, Gouache, Elodie, Acquaviva, Cécile, Tardieu, Marine, Benoist, Jean François, Dumas, Jean-François, Servais, Stéphane, Chevalier, Stéphan, Vianey-Saban, Christine, Labarthe, François
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2017)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2017)
Get full text
Journal Article
Cardiolipin content is involved in liver mitochondrial energy wasting associated with cancer-induced cachexia without the involvement of adenine nucleotide translocase
Julienne, Cloé Mimsy, Tardieu, Marine, Chevalier, Stéphan, Pinault, Michelle, Bougnoux, Philippe, Labarthe, François, Couet, Charles, Servais, Stéphane, Dumas, Jean-François
Published in Biochimica et biophysica acta (01.05.2014)
Published in Biochimica et biophysica acta (01.05.2014)
Get full text
Journal Article