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收藏Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve)对软骨发育不全患儿的纵向观察：全球自然病史研究（ACHieve）的结果
McDonnell, Ciara; Hove, Hanne Buciek; Irving, Melita; White, Klane K.; Fontecha, Cesar G.; Legare, Janet M.; Hogler, Wolfgang; Hoernschemeyer, Daniel G.; Schnabel, Dirk; Unger, Sheila; Bacino, Carlos Alberto; Hofman, Paul; Yu, Yongguo; Ma, Huamei; Gong, Chunxiu; Luo, Xiaoping; Burrow, T. Andrew; Baujat, Genevieve; Mora, Stefano; Fiscaletti, Melissa; Zhao, Carol; Makara, Michael A.; Shu, Aimee D.; Savarirayan, Ravi 分享 收藏 Office Blood Pressure and Obesity in Children with X-Linked HypophosphatemiaBoeckmann, Ineke; Leifheit-Nestler, Maren; Rehberg, Mirko; Sparta, Giuseppina; Evers, Katrina; Schlingmann, Karl Peter; Kemper, Markus J.; Richter-Unruh, Annette; Hiort, Olaf; Grohmann-Held, Karina; Derichs, Ute; Freiberg, Clemens; Weitz, Marcus; Dunstheimer, Desiree; Schmid, Elmar; John-Kroegel, Ulrike; Metzing, Oliver; Heger, Sabine; Jorch, Norbert; Staude, Hagen; Patzer, Ludwig; Wuehl, Elke; Zivicnjak, Miroslav; Schnabel, Dirk; Haffner, Dieter 分享 收藏 Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2Ferreira, Carlos R.; Hackbarth, Mary E.; Nitschke, Yvonne; Botschen, Ulrike; Gafni, Rachel, I; Mughal, M. Zulf; Baujat, Genevieve; Schnabel, Dirk; Schou, I. Manjula; Khursigara, Gus; Reardon, Oona; Burklow, Thomas R.; Swanner, Kathleen; Rutsch, Frank 分享 收藏 Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysisBoot, Annemieke M.; Ariceta, Gema; Beck-Nielsen, Signe Sparre; Brandi, Maria Luisa; Briot, Karine; Collantes, Carmen de Lucas; Giannini, Sandro; Haffner, Dieter; Keen, Richard; Levtchenko, Elena; Mughal, M. Zulf; Makitie, Outi; Nilsson, Ola; Schnabel, Dirk; Tripto-Shkolnik, Liana; Zillikens, M. Carola; Liu, Jonathan; Tudor, Alina; Emma, Francesco 分享 收藏 分享 收藏 LMS-based continuous pediatric reference values for soluble receptor activator of nuclear factor kappa B ligand (sRANKL) and osteoprotegerin (OPG) in the HARP cohortTietze, Helene; Pott, Veronika; Kanzelmeyer, Nele; Memaran, Nima; Baumann, Ulrich; Mindermann, Charlotte; Suhlrie, Adriana; Drube, Jens; Melk, Anette; Das, Anibh M.; Schnabel, Dirk; Haffner, Dieter; Leifheit-Nestler, Maren 分享 收藏 Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial每周一次的travicon CNP (navepegritide) 治疗软骨发育不全儿童 (acimalt): 一项2期，多中心，随机，双盲，安慰剂对照，剂量递增试验Savarirayan, Ravi; Hoernschemeyer, Daniel G.; Ljungberg, Merete; Zarate, Yuri A.; Bacino, Carlos A.; Bober, Michael B.; Legare, Janet M.; Hoegler, Wolfgang; Quattrin, Teresa; Abuzzahab, M. Jennifer; Hofman, Paul L.; White, Klane K.; Ma, Nina S.; Schnabel, Dirk; Sousa, Sergio B.; Mao, Meng; Smith, Alden; Chakraborty, Mukta; Giwa, Adebola; Winding, Bent; Volck, Birgitte; Shu, Aimee D.; McDonnellt, Ciara 分享 收藏 LMS-Based Pediatric Reference Values for Parameters of Phosphate Homeostasis in the HARP CohortPott, Veronika; Tietze, Helene; Kanzelmeyer, Nele; von der Born, Jeannine; Baumann, Ulrich; Mindermann, Charlotte; Suhlrie, Adriana; Drube, Jens; Melk, Anette; Das, Anibh M.; Schnabel, Dirk; Haffner, Dieter; Leifheit-Nestler, Maren 分享 收藏 The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical dataAriceta, Gema; Beck-Nielsen, Signe Sparre; Boot, Annemieke M.; Brandi, Maria Luisa; Briot, Karine; Collantes, Carmen de Lucas; Emma, Francesco; Giannini, Sandro; Haffner, Dieter; Keen, Richard; Levtchenko, Elena; Makitie, Outi; Mughal, M. Zulf; Nilsson, Ola; Schnabel, Dirk; Tripto-Shkolnik, Liana; Liu, Jonathan; Williams, Angela; Wood, Sue; Zillikens, M. Carola 分享 收藏 分享 收藏 Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked HypophosphatemiaEwert, Annika; Rehberg, Mirko; Schlingmann, Karl Peter; Hiort, Olaf; John-Kroegel, Ulrike; Metzing, Oliver; Wuehl, Elke; Schaefer, Franz; Kemper, Markus J.; Derichs, Ute; Richter-Unruh, Annette; Patzer, Ludwig; Albers, Norbert; Dunstheimer, Desiree; Haberland, Holger; Heger, Sabine; Schroeder, Carmen; Jorch, Norbert; Schmid, Elmar; Staude, Hagen; Weitz, Marcus; Freiberg, Clemens; Leifheit-Nestler, Maren; Zivicnjak, Miroslav; Schnabel, Dirk; Haffner, Dieter 分享 收藏 Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countriesMughal, M. Zulf; Baroncelli, Giampiero I.; de Lucas-Collantes, Carmen; Linglart, Agnes; Magnolato, Andrea; Raimann, Adalbert; Santos, Fernando; Schnabel, Dirk; Shaw, Nick; Nilsson, Ola 分享 收藏 Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-Linked hypophosphataemia: rationale and descriptionBrandi, Maria Luisa; Ariceta, Gema; Beck-Nielsen, Signe Sparre; Boot, Annemieke M.; Briot, Karine; de Lucas Collantes, Carmen; Emma, Francesco; Giannini, Sandro; Haffner, Dieter; Keen, Richard; Levtchenko, Elena; Makitie, Outi; Nilsson, Ola; Schnabel, Dirk; Tripto-Shkolnik, Liana; Zillikens, M. Carola; Liu, Jonathan; Tudor, Alina; Mughal, M. Zulf 分享 收藏 分享 收藏 Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 DeficienciesFerreira, Carlos R.; Kintzinger, Kristina; Hackbarth, Mary E.; Botschen, Ulrike; Nitschke, Yvonne; Mughal, M. Zulf; Baujat, Genevieve; Schnabel, Dirk; Yuen, Eric; Gahl, William A.; Gafni, Rachel, I; Liu, Qing; Huertas, Pedro; Khursigara, Gus; Rutsch, Frank 分享 收藏 Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic ControlEckert, Alexander J.; Semler, Oliver; Schnabel, Dirk; Koestner, Katharina; Wurm, Donald; Pozza, Susanne Bechtold-Dalla; Schaaf, Katja; Hoertenhuber, Thomas; Hammersen, Johanna; Holl, Reinhard W. 分享 收藏 Mild COVID-19 despite autoantibodies against type I IFNs in autoimmune polyendocrine syndrome type 1Meisel, Christian; Akbil, Bengisu; Meyer, Tim; Lankes, Erwin; Corman, Victor M.; Staudacher, Olga; Unterwalder, Nadine; Kolsch, Uwe; Drosten, Christian; Mall, Marcus A.; Kallinich, Tilmann; Schnabel, Dirk; Goffinet, Christine; von Bernuth, Horst 分享 收藏 分享 收藏 分享 收藏 
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