未登录 Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes 母乳喂养在遗传代谢病中的应用：生长、代谢控制和神经发育结局的系统综述 Ilgaz, Fatma; Hoeller, Alexander; Marsaux, Cyril; Banta-Wright, Sandra; Coskun, Turgay; Dingess, Kelly A.; Joerg-Streller, Monika; Newby, Camille; Singh, Rani; Stahl, Bernd; Szwec, Clare; van Wegberg, Annemiek; Woestenenk, Willie; Macdonald, Anita; Karall, Daniela 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
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Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries Evers, R. A. F.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C. J.; Kearney, S.; Langeveld, M.; Leuzzi, V; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F. K.; MacDonald, A.; van Spronsen, F. J. 分享 收藏
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders Semeraro, Michela; Sacchetti, Elisa; Deodato, Federica; Coskun, Turgay; Lay, Incilay; Catesini, Giulio; Olivieri, Giorgia; Rizzo, Cristiano; Boenzi, Sara; Dionisi-Vici, Carlo 分享 收藏
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PKU dietary handbook to accompany PKU guidelines (vol 15, 171, 2020) MacDonald, A.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J. 分享 收藏
PKU dietary handbook to accompany PKU guidelines MacDonald, A.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J. 分享 收藏
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Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency (vol 99, pg 69, 2019) Yildiz, Yilmaz; Talim, Beril; Haliloglu, Goknur; Topaloglu, Haluk; Akcoren, Zuhal; Dursun, Ali; Sivri, Hatice Serap; Coskun, Turgay; Tokatli, Aysegul 分享 收藏
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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria 评价苯丙酮尿症患者对盐酸沙丙蝶呤反应性的国际最佳实践 Muntau, Ania C.; Adams, Darius J.; Belanger-Quintana, Amaya; Bushueva, Tatiana V.; Cerone, Roberto; Chien, Yin-Hsiu; Chiesa, Ana; Coskun, Turgay; de las Heras, Javier; Feillet, Francois; Katz, Rachel; Lagler, Florian; Piazzon, Flavia; Rohr, Fran; van Spronsen, Francjan J.; Vargas, Paula; Wilcox, Gisela; Bhattacharya, Kaustuv 分享 收藏
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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency Olsen, Rikke K. J.; Konarikova, Eliska; Giancaspero, Teresa A.; Mosegaard, Signe; Boczonadi, Veronika; Matakovic, Lavinija; Veauville-Merllie, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B.; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez-Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey-Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F.; Konstantopoulou, Vassiliki; Moslinger, Dorothea; Feichtinger, Rene G.; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazza, Daniela; Zollino, Marcella; Ghezzi, Daniele; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M.; Gregersen, Niels; Mayr, Johannes A.; Horvath, Rita; Barile, Maria; Prokisch, Holger 分享 收藏
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Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results Gizewska, Maria; MacDonald, Anita; Belanger-Quintana, Amaya; Burlina, Alberto; Cleary, Maureen; Coskun, Turgay; Feillet, Francois; Muntau, Ania C.; Trefz, Friedrich K.; van Spronsen, Francjan J.; Blau, Nenad 分享 收藏
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening Karaca, Mehmet; Ozgul, Riza Koksal; Unal, Ozlem; Yucel-Yilmaz, Didem; Kilic, Mustafa; Hismi, Burcu; Tokatli, Aysegul; Coskun, Turgay; Dursun, Ali; Sivri, Hatice Serap 分享 收藏
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