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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
EndoCompass Project: Research Roadmap for Calcium and Bone Endocrinology EndoCompass 项目:钙与骨骼内分泌学研究路线图 Jahn-Rickert, Katharina; Tomsic, Karin Zibar; Anastasilakis, Athanasios D.; Bertocchio, Jean-Philippe; Brandi, Maria Luisa; Fassnacht, Martin; Cheung, Moira Shang-Mei; Gevers, Evelien; Gittoes, Neil; Makitie, Outi; Martos-Moreno, Gabriel Angel; Milovanovic, Petar; Raimann, Adalbert; Tencerova, Michaela; Tsourdi, Elena; Vlug, Annegreet G.; Hogler, Wolfgang; Kamenicky, Peter 分享 收藏
Metaphyseal band fractures in pediatric patients treated with denosumab 在应用denosumab治疗的儿科患者中出现的干骺端带状骨折 Montero-Lopez, Rodrigo; Ludwig, Karissa; Jacobs, Benjamin; Chesover, Alexander D.; Alshammri, Fahd; Mayrhofer, Manuela; Blaschitz, Alexandra; Nicholls, Wayne; Munns, Craig F.; Ward, Leanne M.; Hogler, Wolfgang 分享 收藏
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Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants 低磷酸酯酶症患者携带ALPL变异体的生化表型 Montero-Lopez, Rodrigo; Farman, Mariam R.; Hogler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; Tauer, Josephine T.; Kishnani, Priya S.; Hogler, Wolfgang 分享 收藏
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EndoCompass project: research roadmap for calcium and bone endocrinology EndoCompass项目:钙与骨内分泌学的研究路线图 Jahn-Rickert, Katharina; Zibar Tomsic, Karin; Anastasilakis, Athanasios D.; Bertocchio, Jean-Philippe; Brandi, Maria Luisa; Fassnacht, Martin; Cheung, Moira Shang-Mei; Gevers, Evelien; Gittoes, Neil; Makitie, Outi; Martos-Moreno, Gabriel Angel; Milovanovic, Petar; Raimann, Adalbert; Tencerova, Michaela; Tsourdi, Elena; Vlug, Annegreet G.; Hogler, Wolfgang; Kamenicky, Peter 分享 收藏
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Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry 全球HPP登记处非危及生命的低磷酸酯酶症患者ALPL变异数的疾病负担 Kishnani, Priya S.; Seefried, Lothar; Dahir, Kathryn M.; Martos-Moreno, Gabriel a; Hoegler, Wolfgang; Greenberg, Cheryl R.; Fang, Shona; Petryk, Anna; Mowrey, William R.; Linglart, Agnes; Ozono, Keiichi 分享 收藏
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High Parathyroid Hormone Rather than Low Vitamin D Is Associated with Reduced Event-Free Survival in Childhood Cancer 高甲状旁腺激素而不是低维生素d与儿童期癌症的无事件生存率降低有关 Grasemann, Corinna; Hoeppner, Jakob; Hoegler, Wolfgang; Tippelt, Stephan; Grasemann, Maximilian; Grabow, Desiree; Cario, Gunnar; Zimmermann, Martin; Schrappe, Martin; Reinhardt, Dirk; Schuendeln, Michael M. 分享 收藏
A perspective on muscle phenotyping in musculoskeletal research 肌肉骨骼研究中肌肉表型的展望 Foessl, Ines; Ackert-Bicknell, Cheryl L.; Kague, Erika; Laskou, Faidra; Jakob, Franz; Karasik, David; Obermayer-Pietsch, Barbara; Alonso, Nerea; Bjornerem, Ashild; Brandi, Maria Luisa; Busse, Bjorn; Calado, Angelo; Cebi, Alper Han; Christou, Maria; Curran, Kathleen M.; Hald, Jannie Dahl; Semeraro, Maria Donatella; Douni, Eleni; Duncan, Emma L.; Duran, Ivan; Formosa, Melissa M.; Gabet, Yankel; Ghatan, Samuel; Gkitakou, Artemis; Hassler, Eva Maria; Hogler, Wolfgang; Heino, Terhi J.; Hendrickx, Gretl; Khashayar, Patricia; Kiel, Douglas P.; Koromani, Fjorda; Langdahl, Bente; Lopes, Philippe; Makitie, Outi; Maurizi, Antonio; Medina-Gomez, Carolina; Ntzani, Evangelia; Ohlsson, Claes; Prijatelj, Vid; Rabionet, Raquel; Reppe, Sjur; Rivadeneira, Fernando; Roshchupkin, Gennady; Sharma, Neha; Soe, Kent; Styrkarsdottir, Unnur; Szulc, Pavel; Teti, Anna; Tobias, Jon; Valjevac, Amina; van de Peppel, Jeroen; van der Eerden, Bram; van Rietbergen, Bert; Zekic, Tatjana; Zillikens, M. Carola 分享 收藏
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry Kishnani, Priya S.; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Petryk, Anna; Messali, Andrew; Fang, Shona; Rockman-Greenberg, Cheryl; Ozono, Keiichi; Hoegler, Wolfgang; Seefried, Lothar; Dahir, Kathryn M. 分享 收藏
Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period Burosumab与X连锁低磷血症患儿的常规治疗: 开放标签,3期延长期的结果 Ward, Leanne M.; Hoegler, Wolfgang; Glorieux, Francis H.; Portale, Anthony A.; Whyte, Michael P.; Munns, Craig F.; Nilsson, Ola; Simmons, Jill H.; Padidela, Raja; Namba, Noriyuki; Cheong, Hae, II; Sochett, Etienne; Muroya, Koji; Tanaka, Hiroyuki; Pitukcheewanont, Pisit; Gottesman, Gary S.; Biggin, Andrew; Perwad, Farzana; Chen, Angel; Merritt, John Lawrence; Imel, Erik A. 分享 收藏
The Global ALPL gene variant classification project: Dedicated to deciphering variants Farman, Mariam R.; Rehder, Catherine; Malli, Theodora; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Webersinke, Gerald; Barbazza, Francesca; John, Lisa K.; Mudiyanselage, Sewmi M. A. Delana; Hoegler, Florian; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; El-Gazzar, Ahmed; Kishnani, Priya S.; Hoegler, Wolfgang 分享 收藏
Management of RANKL-mediated Disorders With Denosumab in Children and Adolescents: A Global Expert Guidance Document Vanderniet, Joel A.; Szymczuk, Vivian; Hogler, Wolfgang; Beck-Nielsen, Signe S.; Uday, Suma; Merchant, Nadia; Crane, Janet L.; Ward, Leanne M.; Boyce, Alison M.; Munns, Craig F. 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