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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 分享 收藏
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Time to diagnosis in patients with rare kidney diseases: findings form the European Rare Kidney Disease Registry 罕见肾脏病患者确诊时间：欧洲罕见肾脏病登记研究的发现 Schaefer, Franz; Servais, Aude; Boyer, Olivia; Emma, Francesco; Claes, Kathleen; Bacchetta, Justine; Capone, Valentina; Trepiccione, Francesco; Maternik, Michal; Beltran, Victor Perez; Lungu, Adrian Catalin; Roccatello, Dario 分享 收藏
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Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies 基因型-表型相关性及遗传性TRPC6足细胞病变的临床结局 McAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J. 分享 收藏
Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN Servais, Aude; Zacchia, Miriam; Dehoux, Laurene; Shroff, Rukshana; Brassier, Anais; Taurisano, Roberta; Koelker, Stefan; Oh, Jun; Ariceta, Gema; Stojanovic, Jelena; Hoerster, Friederike; Strologo, Dello; Spada, Marco; Schiff, Manuel; Dionisi-Vici, Carlo 分享 收藏
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations Dollfus, Helene; Lilien, Marc R.; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M.; Cetiner, Metin; van den Akker, Erica L. T.; Pechhacker, Monika Grudzinska; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F.; Simonelli, Francesca; Gouronc, Aurelie; Gavard, Amelie; van Haelst, Mieke M.; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P.; Mosbah, Helena; Van Eerde, Albertien M.; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana 分享 收藏
Reassuring pregnancy outcomes in women with mild COL4A3-5 - related disease (Alport syndrome) and genetic type of disease can aid personalized counseling Gosselink, Margriet E.; Snoek, Rozemarijn; Cerkauskaite-Kerpauskiene, Agne; van Bakel, Sophie P. J.; Vollenberg, Renee; Groen, Henk; Cerkauskiene, Rimante; Miglinas, Marius; Attini, Rossella; Tory, Kalman; Claes, Kathleen J.; van Calsteren, Kristel; Servais, Aude; de Jong, Margriet F. C.; Gillion, Valentine; Vogt, Liffert; Mastrangelo, Antonio; Furlano, Monica; Torra, Roser; Bramham, Kate; Wiles, Kate; Ralston, Elizabeth R.; Hall, Matthew; Liu, Lisa; Hladunewich, Michelle A.; Lely, A. Titia; van Eerde, Albertien M. 分享 收藏
Assessment of epidemiology and outcomes of adult patients with kidney-limited thrombotic microangiopathies Maisons, Valentin; Duval, Anna; Mesnard, Laurent; Frimat, Marie; Fakhouri, Fadi; Grange, Steven; Servais, Aude; Cartery, Claire; Fauchier, Laurent; Coppo, Paul; Titeca-Beauport, Dimitri; Fage, Nicolas; Delmas, Yahsou; Querard, Anne-Helene; Seret, Guillaume; Bobot, Mickael; Le Quintrec, Moglie; Ville, Simon; von Tokarski, Florent; Chauvet, Sophie; Wynckel, Alain; Martins, Manon; Schurder, Juliet; Barbet, Christelle; Sautenet, Benedicte; Gatault, Philippe; Caillard, Sophie; Vuiblet, Vincent; Halimi, Jean-Michel 分享 收藏
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study Busiah, Kanetee; Roda, Celina; Crosnier, Anne-Sophie; Brassier, Anais; Servais, Aude; Wicker, Camille; Dubois, Sandrine; Assoun, Murielle; Belloche, Claire; Ottolenghi, Chris; Pontoizeau, Clement; Souberbielle, Jean-Claude; Piketty, Marie-Liesse; Perin, Laurence; Le Bouc, Yves; Arnoux, Jean -Baptiste; Netchine, Irene; Imbard, Apolline; de Lonlay, Pascale 分享 收藏
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Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval Lodewyckx, Pierre; Issa, Jean; Gaschignard, Margaux; Lamireau, Delphine; De Lonlay, Pascale; Servais, Aude; Barth, Magalie; Courapied, Sandy; Morin, Gilles; Benbrik, Nadir; Maillot, Francois; Babuty, Dominique; Labarthe, Francois; Lefort, Bruno 分享 收藏
Rare Variants in Complement Gene in C3 Glomerulopathy and Immunoglobulin-Mediated Membranoproliferative GN Meuleman, Marie Sophie; Vieira-Martins, Paula; El Sissy, Carine; Audard, Vincent; Baudouin, Veronique; Bertrand, Dominique; Bridoux, Frank; Louillet, Ferielle; Dossier, Claire; Esnault, Vincent; Jourde-Chiche, Noemie; Karras, Alexandre; Morin, Marie-Pascale; Provot, Francois; Remy, Philippe; Ribes, David; Rousset-Rouviere, Caroline; Servais, Aude; Thervet, Eric; Tricot, Leila; Zaidan, Mohamad; Wynckel, Alain; Zuber, Julien; Le Quintrec, Moglie; Fremeaux-Bacchi, Veronique; Chauvet, Sophie 分享 收藏
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies Nephronphthisis和相关纤毛病的遗传景观和临床谱 Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Moriniere, Vincent; Krug, Pauline; Jeanpierre, Cecile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie 分享 收藏
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