未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis Tchernychev, Boris; Nitschke, Yvonne; Chu, Di; Sullivan, Caitlin; Flaman, Lisa; O'Brien, Kevin; Howe, Jennifer; Cheng, Zhiliang; Thompson, David; Ortiz, Daniel; Rutsch, Frank; Sabbagh, Yves 分享 收藏
Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria Sacharow, Stephanie; Muntau, Ania C.; Bratkovic, Drago; Margvelashvili, Lali; Agladze, Dodo; Guilder, Laura; Schwartz, Ida Vanessa D.; Minami, Maria Avanise Yumi; Kiykim, Ertugrul; Guerra, Ixiu del Carmen Cabrales; Zori, Roberto; Campistol, Jaume; Oliveira, Anabela; Janeiro, Patricia; Rutsch, Frank; Lund, Allan; Mungan, Halise; Vijay, Suresh; MacDonald, Anita; Chakrapani, Anupam; Opladen, Thomas; Tchan, Michel; Ingalls, Kimberly; Hughes, Catalina; Zhao, Zhenming; Larkin, Alexandra; Smith, Neil; Lah, Melissa 分享 收藏
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria Burton, Barbara K.; Clague, Gillian E.; Harding, Cary O.; Kucuksayrac, Ece; Levy, Drew G.; Lindstrom, Kristin; Longo, Nicola; Maillot, Francois; Muntau, Ania C.; Rutsch, Frank; Zori, Roberto T. 分享 收藏
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design Hebestreit, Helge; Lapstich, Anne-Marie; Brandstetter, Lilly; Krauth, Christian; Deckert, Juergen; Haas, Kirsten; Pfister, Lisa; Witt, Stefanie; Schippers, Christopher; Dieris-Hirche, Jan; Maisch, Tim; Tuescher, Oliver; Barlescu, Lavinia; Berger, Alexandra; Berneburg, Mark; Britz, Vanessa; Deibele, Anna; Graessner, Holm; Guendel, Harald; Heuft, Gereon; Luecke, Thomas; Mundlos, Christine; Quitmann, Julia; Rutsch, Frank; Schubert, Katharina; Schulz, Joerg Bernhard; Schweiger, Susann; Zeidler, Cornelia; Zeltner, Lena; de Zwaan, Martina 分享 收藏
Two years of pegvaliase in Germany: Experiences and best practice recommendations 德国pegvaliase两年: 经验和最佳实践建议 Kraemer, Johannes; Baerwald, Christoph; Heimbold, Christian; Kamrath, Clemens; Parhofer, Klaus G.; Reichert, Anja; Rutsch, Frank; Stolz, Simone; Weinhold, Natalie; Muntau, Ania C. 分享 收藏
分享 收藏
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study 软骨发育不全儿童的生长参数: 一项为期7年的前瞻性多国观察性研究 Savarirayan, Ravi; Irving, Melita; Harmatz, Paul; Delgado, Borja; Wilcox, William R.; Philips, John; Owen, Natalie; Bacino, Carlos A.; Tofts, Louise; Charrow, Joel; Polgreen, Lynda E.; Hoover-Fong, Julie; Arundel, Paul; Ginebreda, Ignacio; Saal, Howard M.; Basel, Donald; Font, Rosendo Ullot; Ozono, Keiichi; Bober, Michael B.; Cormier-Daire, Valerie; Kim-Hanh Le Quan Sang; Baujat, Genevieve; Alanay, Yasemin; Rutsch, Frank; Hoernschemeyer, Daniel; Mohnike, Klaus; Mochizuki, Hiroshi; Tajima, Asako; Kotani, Yumiko; Weaver, David D.; White, Klane K.; Army, Clare; Larrimore, Kevin; Gregg, Keith; Jeha, George; Milligan, Claire; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan 分享 收藏
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William R.; Bacino, Carlos A.; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B.; Polgreen, Lynda E.; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kotani, Yumiko; Yasui, Natsuo; White, Klane K.; Saal, Howard M.; Leiva-Gea, Antonio; Luna-Gonzalez, Felipe; Mochizuki, Hiroshi; Basel, Donald; Porco, Dania M.; Jayaram, Kala; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan R. S. 分享 收藏
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Maertner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Kraemer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Naeke, Andrea; Hoffmann, Georg F.; Muehlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Koelker, Stefan; Boy, Nikolas 分享 收藏
分享 收藏
分享 收藏
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at <4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial 在4岁以下开始使用sopropterin的苯丙酮尿症患者中sopropterin的长期疗效和安全性: SPARK开放标签，多中心，随机IIIb期试验延长3年的结果 Muntau, Ania C.; Burlina, Alberto; Eyskens, Francois; Freisinger, Peter; Leuzzi, Vincenzo; Sivri, Hatice Serap; Gramer, Gwendolyn; Pazdirkova, Renata; Cleary, Maureen; Lotz-Havla, Amelia S.; Lane, Paul; Alvarez, Ignacio; Rutsch, Frank 分享 收藏
Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study Klimek, Annemarie; Baerwald, Christoph; Schwarz, Martin; Rutsch, Frank; Parhofer, Klaus G.; Ploeckinger, Ursula; Heddrich-Ellerbrok, Margret; vom Dahl, Stephan; Schoene, Klaus; Ott, Markus; Lang, Frauke; Hennermann, Julia B. 分享 收藏
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us? van Vliet, Danique; van Wegberg, Annemiek M. J.; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Hertecant, Jozef L.; Leuzzi, Vincenzo; Mathisen, Per; Nardecchia, Francesca; Powell, Kimberly K.; Rutsch, Frank; Stojiljkovic, Maja; Trefz, Fritz K.; Usurelu, Natalia; Wilson, Callum; van Karnebeek, Clara D.; Hanley, William B.; van Spronsen, Francjan J. 分享 收藏
分享 收藏
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png)
OAAI
.png){kind=icon}
分享.png){kind=icon}
收藏