未登录Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?严重甲基丙二酸血症和丙酸血症的营养管理：多少医疗食品算过量？
Margoses, Diane; Imbard, Apolline; Pontoizeau, Clement; Brassier, Anais; Arnoux, Jean-Baptiste; Bouchereau, Juliette; Berat, Claire-Marine; Assoun, Murielle; Belloche, Claire; Dewulf, Sabine; Dubois, Sandrine; Samba, Benedicte; Servais, Aude; Dao, Myriam; Le Guillou, Edouard; de Colnet, Amelie; Ottolenghi, Chris; de Lonlay, Pascale; Benoist, Jean-Francois; Schiff, Manuel .png)
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收藏分享 收藏 分享 收藏 分享 收藏 Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGPajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. 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Pontoizeau, Clement; Benoist, Jean-Francois; Josse, Constant; Montestruc, Francois; de Lonlay, Pascale 分享 收藏 Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?Renard, Perrine; Caccavelli, Laure; Legendre, Antoine; Tuchmann-Durand, Caroline; Balakirouchenane, David; Blanchet, Benoit; Straube, Marjolene; Narjoz, Celine; Hubas, Arnaud; Garros, Alexa; Mention, Karine; Bednarek, Nathalie; Goudin, Nicolas; Broissand, Christine; Schlatter, Joel; Cisternino, Salvatore; Cagnard, Nicolas; van Endert, Peter; Diana, Julien; de Calbiac, Hortense; de Lonlay, Pascale 分享 收藏 Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachOuattara, Abdoulaye; Resseguier, Noemie; Cano, Aline; De Lonlay, Pascale; Arnoux, Jean-Baptiste; Brassier, Anais; Schiff, Manuel; Pichard, Samia; Fabre, Alexandre; Hoebeke, Celia; Guffon, Nathalie; Fouilhoux, Alain; Broue, Pierre; Touati, Guy; Dobbelaere, Dries; Mention, Karine; Labarthe, Francois; Tardieu, Marine; De Parscau, Loic; Feillet, Francois; Bonnemains, Chrystele; Kuster, Alice; Labrune, Philippe; Barth, Magalie; Damaj, Lena; Lamireau, Delphine; Berbis, Julie; Auquier, Pascal; Chabrol, Brigitte 分享 收藏 Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCafournet, Cerane; Zanin, Sofia; Guimier, Anne; Hully, Marie; Assouline, Zahra; Barcia, Giulia; de Lonlay, Pascale; Steffann, Julie; Munnich, Arnold; Bonnefont, Jean-Paul; Rotig, Agnes; Ruzzenente, Benedetta; Metodiev, Metodi D. 分享 收藏 Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in micePontoizeau, Clement; Simon-Sola, Marcelo; Gaborit, Clovis; Nguyen, Vincent; Rotaru, Irina; Tual, Nolan; Colella, Pasqualina; Girard, Muriel; Biferi, Maria-Grazia; Arnoux, Jean-Baptiste; Rotig, Agnes; Ottolenghi, Chris; de Lonlay, Pascale; Mingozzi, Federico; Cavazzana, Marina; Schiff, Manuel 分享 收藏 Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study枫糖浆尿病急性失代偿的儿童和成人无支链氨基酸溶液的静脉给药: 一项前瞻性多中心观察性研究Alili, Jean-Meidi; 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