未登录 Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias Nizon, Mathilde; Ottolenghi, Chris; Valayannopoulos, Vassili; Arnoux, Jean-Baptiste; Barbier, Valerie; Habarou, Florence; Desguerre, Isabelle; Boddaert, Nathalie; Bonnefont, Jean-Paul; Acquaviva, Cecile; Benoist, Jean-Francois; Rabier, Daniel; Touati, Guy; de Lonlay, Pascale 分享 收藏
Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease Brassier, A.; Boyer, O.; Valayannopoulos, V.; Ottolenghi, C.; Krug, P.; Cosson, M. A.; Touati, G.; Amoux, J. B.; Barbier, V.; Bahi-Buisson, N.; Desguerre, I.; Charbit, M.; Benoist, J. F.; Dupic, L.; Aigrain, Y.; Blanc, T.; Salomon, R.; Rabier, D.; Guest, G.; de Lonlay, P.; Niaudet, P. 分享 收藏
Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome Brassier, Anais; Ottolenghi, Chris; Boutron, Audrey; Bertrand, Anne-Marie; Valmary-Degano, Severine; Cervoni, Jean-Paul; Chretien, Dominique; Arnoux, Jean-Baptiste; Hubert, Laurence; Rabier, Daniel; Lacaille, Florence; de Keyzer, Yves; Di Martino, Vincent; de Lonlay, Pascale 分享 收藏
Portosystemic shunts: An underdiagnosed but treatable cause of neurological and psychiatric disorders Degos, Bertrand; Daelman, Laure; Huberfeld, Gilles; Meppiel, Elodie; Rabier, Daniel; Galanaud, Damien; Magis, Anne-Sophie; Lyon-Caen, Olivier; Samuel, Didier; Sedel, Frederic 分享 收藏
Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet Valayannopoulos, Vassili; Bajolle, Fanny; Arnoux, Jean-Baptiste; Dubois, Sandrine; Sannier, Nathalie; Baussan, Christiane; Petit, Francois; Labrune, Philippe; Rabier, Daniel; Ottolenghi, Chris; Vassault, Anne; Broissand, Christine; Bonnet, Damien; De Lonlay, Pascale 分享 收藏
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency Boutron, A.; Acquaviva, C.; Vianey-Saban, C.; de Lonlay, P.; de Baulny, H. Ogier; Guffon, N.; Dobbelaere, D.; Feillet, F.; Labarthe, F.; Lamireau, D.; Cano, A.; de Villemeur, T. Billette; Munnich, A.; Saudubray, J. M.; Rabier, D.; Rigal, O.; Brivet, M. 分享 收藏
Clinical and Biochemical Heterogeneity Associated with Fumarase Deficiency Ottolenghi, Chris; Hubert, Laurence; Allanore, Yannick; Brassier, Anais; Altuzarra, Cecilia; Mellot-Draznieks, Caroline; Bekri, Soumeya; Goldenberg, Alice; Veyrieres, Severine; Boddaert, Nathalie; Barbier, Valerie; Valayannopoulos, Vassili; Slama, Abdelhamid; Chretien, Dominique; Ricquier, Daniel; Marret, Stephane; Frebourg, Thierry; Rabier, Daniel; Munnich, Arnold; de Keyzer, Yves; Toulhoat, Herve; de Lonlay, Pascale 分享 收藏
Mevalonate Kinase Deficiency: A Survey of 50 Patients Bader-Meunier, Brigitte; Florkin, Benoit; Sibilia, Jean; Acquaviva, Cecile; Hachulla, Eric; Grateau, Gilles; Richer, Olivier; Farber, Claire Michele; Fischbach, Michel; Hentgen, Veronique; Jego, Patrick; Laroche, Cecile; Neven, Benedicte; Lequerre, Thierry; Mathian, Alexis; Pellier, Isabelle; Touitou, Isabelle; Rabier, Daniel; Prieur, Anne-Marie; Cuisset, Laurence; Quartier, Pierre 分享 收藏
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report Dessein, Anne-Frederique; Fontaine, Monique; Andresen, Brage S.; Gregersen, Niels; Brivet, Michele; Rabier, Daniel; Napuri-Gouel, Silvia; Dobbelaere, Dries; Mention-Mulliez, Karine; Martin-Ponthieu, Annie; Briand, Gilbert; Millington, David S.; Vianey-Saban, Christine; Wanders, Ronald J. A.; Vamecq, Joseph 分享 收藏
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria Valayannopoulos, Vassili; Haudry, Coralie; Serre, Valerie; Barth, Magalie; Boddaert, Nathalie; Arnoux, Jean-Baptiste; Cormier-Daire, Valerie; Rio, Marlene; Rabier, Daniel; Vassault, Anne; Munnich, Arnold; Bonnefont, Jean-Paul; de Lonlay, Pascale; Roetig, Agnes; Lebre, Anne-Sophie 分享 收藏
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease Mochel, Fanny; Duteil, Sandrine; Marelli, Cecilia; Jauffret, Celine; Barles, Agnes; Holm, Janette; Sweetman, Lawrence; Benoist, Jean-Francois; Rabier, Daniel; Carlier, Pierre G.; Durr, Alexandra 分享 收藏
分享 收藏
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency Valayannopoulos, V.; Boddaert, N.; Mention, K.; Touati, G.; Barbier, V.; Chabli, A.; Sedel, F.; Kaplan, J.; Dufier, J. L.; Seidenwurm, David; Rabier, D.; Saudubray, J. M.; de Lonlay, P. 分享 收藏
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria Cosson, M. A.; Touati, G.; Lacaille, F.; Valayannnopoulos, V.; Guyot, C.; Guest, G.; Verkarre, V.; Chretien, D.; Rabier, D.; Munnich, A.; Benoist, J. F.; de Keyzer, Y.; Niaudet, P.; de Lonlay, P. 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Allogeneic bone marrow transplantation in mevalonic aciduria Neven, Benedicte; Valayannopoulos, Vassili; Quartier, Pierre; Blanche, Stephane; Prieur, Anne-Marie; Debre, Marianne; Rolland, Marie-Odile; Rabier, Daniel; Cuisset, Laurence; Cavazzana-Calvo, Marina; de Lonlay, Pascale; Fischer, Alain 分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
