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The Genetic Landscape and Epidemiology of Phenylketonuria 苯丙酮尿症的遗传景观和流行病学 Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K.; Carducci, Carla; Chiesa, Ana E.; Christodoulou, John; Dordevic, Maja; Desviat, Lourdes R.; Eliyahu, Aviva; Evers, Roeland A. F.; Fajkusova, Lena; Feillet, Francois; Bonfim-Freitas, Pedro E.; Gizewska, Maria; Gundorova, Polina; Karall, Daniela; Kneller, Katya; Kutsev, Sergey, I; Leuzzi, Vincenzo; Levy, Harvey L.; Lichter-Konecki, Uta; Muntau, Ania C.; Namour, Fares; Oltarzewski, Mariusz; Paras, Andrea; Perez, Belen; Polak, Emil; Polyakov, Alexander, V; Porta, Francesco; Rohrbach, Marianne; Scholl-Burgi, Sabine; Specola, Norma; Stojiljkovic, Maja; Shen, Nan; Santana-da Silva, Luiz C.; Skouma, Anastasia; van Spronsen, Francjan; Stoppioni, Vera; Thony, Beat; Trefz, Friedrich K.; Vockley, Jerry; Yu, Youngguo; Zschocke, Johannes; Hoffmann, Georg F.; Garbade, Sven F.; Blau, Nenad 分享 收藏
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency D，L-3-hydroxybutyrate (D，L-3-HB) 治疗多发性酰基辅酶a脱氢酶缺乏症的疗效和安全性 van Rijt, Willemijn J.; Jager, Emmalie A.; Allersma, Derk P.; Zeybek, A. Cigdem Aktuglu; Bhattacharya, Kaustuv; Debray, Francois-Guillaume; Ellaway, Carolyn J.; Gautschi, Matthias; Geraghty, Michael T.; Gil-Ortega, David; Larson, Austin A.; Moore, Francesca; Morava, Eva; Morris, Andrew A.; Oishi, Kimihiko; Schiff, Manuel; Scholl-Buergi, Sabine; Tchan, Michel C.; Vockley, Jerry; Witters, Peter; Wortmann, Saskia B.; van Spronsen, Francjan; Van Hove, Johan L. K.; Derks, Terry G. J. 分享 收藏
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Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria Pinto, Alex; Almeida, Manuela Ferreira; MacDonald, Anita; Ramos, Paula Cristina; Rocha, Sara; Guimas, Arlindo; Ribeiro, Rosa; Martins, Esmeralda; Bandeira, Anabela; Jackson, Richard; van Spronsen, Francjan; Payne, Anne; Rocha, Julio Cesar 分享 收藏
The Effect of Glycomacropeptide versus Amino Acids on Phenylalanine and Tyrosine Variability over 24 Hours in Children with PKU: A Randomized Controlled Trial Daly, Anne; Evans, Sharon; Chahal, Satnam; Santra, Saikat; Pinto, Alex; Gingell, Cerys; Rocha, Julio Cesar; van Spronsen, Francjan; Jackson, Richard; MacDonald, Anita 分享 收藏
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice Mayorandan, Sebene; Meyer, Uta; Gokcay, Guelden; Segarra, Nuria Garcia; de Baulny, Helene Ogier; van Spronsen, Francjan; Zeman, Jiri; de laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie Sophia; de Juan, Jose Angel Cocho; Pico, Maria Luz Couce; Santer, Rene; Scholl-Buergi, Sabine; Mandel, Hanna; Bliksrud, Yngve Thomas; Freisinger, Peter; Aldamiz-Echevarria, Luis Jose; Hochuli, Michel; Gautschi, Matthias; Endig, Jessica; Jordan, Jens; McKiernan, Patrick; Ernst, Stefanie; Morlot, Susanne; Vogel, Arndt; Sander, Johannes; Das, Anibh Martin 分享 收藏
Phenylketonuria Scientific Review Conference: State of the science and future research needs 苯丙酮尿症科学审查会议: 科学状况和未来研究需求 Camp, Kathryn M.; Parisi, Melissa A.; Acosta, Phyllis B.; Berry, Gerard. T.; Bilder, Deborah A.; Blau, Nenad; Bodamer, Olaf A.; Brosco, Jeffrey P.; Brown, Christine S.; Burlina, Alberto B.; Burton, Barbara K.; Chang, Christine S.; Coates, Paul M.; Cunningham, Amy C.; Dobrowolski, Steven F.; Ferguson, John H.; Franklin, Thomas D.; Frazier, Dianne M.; Grange, Dorothy K.; Greene, Carol L.; Groft, Stephen C.; Harding, Cary O.; Howell, R. Rodney; Huntington, Kathleen L.; Hyatt-Knorr, Henrietta D.; Jevaji, Indira P.; Levy, Harvey L.; Lichter-Konecki, Uta; Lindegren, Mary Lou; Lloyd-Puryear, Michele A.; Matalon, Kimberlee; MacDonald, Anita; McPheeters, Melissa L.; Mitchell, John J.; Mofidi, Shideh; Moseley, Kathryn D.; Mueller, Christine M.; Mulberg, Andrew E.; Nerurkar, Lata S.; Ogata, Beth N.; Pariser, Anne R.; Prasad, Suyash; Pridjian, Gabriella; Rasmussen, Sonja A.; Reddy, Uma M.; Rohr, Frances J.; Singh, Rani H.; Sirrs, Sandra M.; Stremer, Stephanie E.; Tagle, Danilo A.; Thompson, Susan M.; Urv, Tiina K.; Utz, Jeanine R.; van Spronsen, Francjan; Vockley, Jerry; Waisbren, Susan E.; Weglicki, Linda S.; White, Desiree A.; Whitley, Chester B.; Wilfond, Benjamin S.; Yannicelli, Steven; Young, Justin M. 分享 收藏
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency 磷酸葡萄糖变现酶1缺乏症的多种表型 Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M. -E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforet, P.; Petit, F.; Aumaitre, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T. 分享 收藏
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene Ebberink, Merel S.; Koster, Janet; Visser, Gepke; van Spronsen, Francjan; Stolte-Dijkstra, Irene; Smit, G. Peter A.; Fock, Johanna M.; Kemp, Stephan; Wanders, Ronald J. A.; Waterham, Hans R. 分享 收藏
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