未登录 分享 收藏
分享 收藏
High-Dose L-Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature SARS1缺乏症患者在发热失代偿期间高剂量L-丝氨酸补充治疗：1例病例报告及文献综述 Valle, Victor Andres; Wiedemnan, Arnaud; Feigerlova, Eva; Coelho, David; Jeannesson, Elise; Rotaru, Irina; Merten, Marc; Raharimanana, Alexandre; Feillet, Francois; Ravel, Jean-Marie 分享 收藏
International Survey on Phenylketonuria Newborn Screening Trampuz, Domen; Schielen, Peter C. J. I.; Zetterstrom, Rolf H.; Scarpa, Maurizio; Feillet, Francois; Kozich, Viktor; Tangeraas, Trine; Torkar, Ana Drole; Mlinaric, Matej; Perko, Dasa; Remec, Ziga Iztok; Lampret, Barbka Repic; Battelino, Tadej; ISNS Study Grp PKU, Francjan J.; van Spronsen, Francjan J.; Bonham, James R.; Groselj, Urh 分享 收藏
Nutritional value of organic food in children 有机食品在儿童中的营养价值 De Luca, Arnaud; Bocquet, Alain; Brancato-Bouet, Sandra; Chalumeau, Martin; Dupont, Christophe; Darmaun, Dominique; Feillet, Francois; Frelut, Marie-Laure; Guimber, Dominique; Lapillonne, Alexandre; Linglart, Agnes; Nicklaus, Sophie; Peretti, Noel; Roze, Jean-Christophe; Simeoni, Umberto; Chouraqui, Jean-Pierre 分享 收藏
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Gokmen-Ozel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Aysegul; MacDonald, Anita 分享 收藏
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? 来自欧洲2012年和2018的苯丙酮尿症患者的血苯丙氨酸水平: 这是一个变化的景观吗？ Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Goekmen-oezel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Ayseguel; Macdonald, Anita 分享 收藏
Blood phenylalanine control in patients with phenylketonuria in Europe: is it a changing landscape? Pinto, A.; Ahring, K.; Almeida, M. F.; Belanger-Quintana, A.; Burlina, A.; Daly, A.; van Dam, E.; Feillet, F.; Gizewska, M.; Gokmen-Ozel, H.; Hoekstra, Y.; Ilgaz, F.; Lesniak, A.; Loro, C.; Rocha, J. C.; Rodenburg, I.; van Spronsen, F.; MacDonald, A. 分享 收藏
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease 遗传和非遗传因素对NBAS相关疾病表型多样性的影响 Hammann, Nicole; Lenz, Dominic; Baric, Ivo; Crushell, Ellen; Vici, Carlo Dionisi; Distelmaier, Felix; Feillet, Francois; Freisinger, Peter; Hempel, Maja; Khoreva, Anna L.; Laass, Martin W.; Lacassie, Yves; Lainka, Elke; Larson-Nath, Catherine; Li, Zhongdie; Lipinski, Patryk; Lurz, Eberhard; Megarbane, Andre; Nobre, Susana; Olivieri, Giorgia; Peters, Bianca; Prontera, Paolo; Schlieben, Lea D.; Seroogy, Christine M.; Sobacchi, Cristina; Suzuki, Shigeru; Tran, Christel; Vockley, Jerry; Wang, Jian-She; Wagner, Matias; Prokisch, Holger; Garbade, Sven F.; Kolker, Stefan; Hoffmann, Georg F.; Staufner, Christian 分享 收藏
分享 收藏
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema Passchier, Emma M. J.; Kerst, Sven; Brouwers, Eelke; Hamilton, Eline M. C.; Bisseling, Quinty; Bugiani, Marianna; Waisfisz, Quinten; Kitchen, Philip; Unger, Lucas; Breur, Marjolein; Hoogterp, Leoni; de Vries, Sharon, I; Abbink, Truus E. M.; Kole, Maarten H. P.; Leurs, Rob; Vischer, Henry F.; Brignone, Maria S.; Ambrosini, Elena; Feillet, Francois; Born, Alfred P.; Epstein, Leon G.; Mansvelder, Huibert D.; Min, Rogier; van der Knaap, Marjo S. 分享 收藏
分享 收藏
UQCRC2-related mitochondrial complex III deficiency, about 7 patients Bansept, Claire; Gaignard, Pauline; Lebigot, Elise; Eyer, Didier; Delplancq, Geoffroy; Hoebeke, Celia; Mazodier, Karin; Ledoyen, Anais; Rouzier, Cecile; Fragaki, Konstantina; Saadi, Samira Ait-El-Mkadem; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Feillet, Francois; Warde, Marie-Therese Abi 分享 收藏
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial Imbard, Apolline; Toumazi, Artemis; Magreault, Sophie; Garcia-Segarra, Nuria; Schlemmer, Dimitri; Kaguelidou, Florentia; Perronneau, Isabelle; Haignere, Jeremie; de Baulny, Helene Ogier; Kuster, Alice; Feillet, Francois; Alberti, Corinne; Guilmin-Crepon, Sophie; Benoist, Jean-Francois; Schiff, Manuel 分享 收藏
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis Wedemann, Arnaud; Oussalah, Abderrahim; Lamireau, Nathalie; Theron, Maurane; Julien, Melissa; Mergnac, Jean-Philippe; Augay, Baptiste; Deniaud, Pauline; Alix, Tom; Frayssinoux, Marine; Fellet, Francois; Gueant, Jean-Louis 分享 收藏
分享 收藏
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12 Oussalah, Abderrahim; Siblini, Youssef; Hergalant, Sebastien; Chery, Celine; Rouyer, Pierre; Cavicchi, Catia; Guerrini, Renzo; Morange, Pierre-Emmanuel; Tregouet, David; Pupavac, Mihaela; Watkins, David; Pastinen, Tomi; Chung, Wendy K.; Ficicioglu, Can; Feillet, Francois; Froese, D. Sean; Baumgartner, Matthias R.; Benoist, Jean-Francois; Majewski, Jacek; Morrone, Amelia; Rosenblatt, David S.; Gueant, Jean-Louis 分享 收藏
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}
