未登录A Carbohydrate-Restricted Diet in Obese Female Mice Reduces Hepatic Lipogenesis Through a Low-Grade Proinflammatory State肥胖雌性小鼠中的低碳水化合物饮食通过低度促炎性状态降低肝脂生成
Frago, Laura M.; Gomez-Romero, Alfonso; Casado, Maria E.; Canelles, Sandra; Jimenez-Hernaiz, Maria; Ros, Purificacion; Azorin-Cuadrillero, Daniel; Argente, Jesus; Martos-Moreno, Gabriel A.; Barrios, Vicente
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收藏EndoCompass Project: Research Roadmap for Calcium and Bone EndocrinologyEndoCompass 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
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收藏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
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收藏EndoCompass project: research roadmap for calcium and bone endocrinologyEndoCompass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
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收藏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
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收藏IND.243: a multiple expansion cohort, signal seeking and dose confirmation phase 2 trial of the PKMYT1 inhibitor lunresertib
Drew, Y.; Lheureux, S.; Chen, E.; Tsang, E.; Robinson, A.; Rushton, M.; Welch, S.; Martos, G.; Dhani, N.; Tinker, A.; King, I.; Smrke, A.; Unger, T.; Sederias, J.; Tu, W.; Seymour, L.
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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.
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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
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收藏Increased IGFBP Proteolysis, IGF-I Bioavailability, and Pappalysin Levels in Children With Prader-Willi Syndrome
Barrios, Vicente; Martin-Rivada, Alvaro; Martos-Moreno, Gabriel A.; Canelles, Sandra; Moreno-Macian, Francisca; De Mingo-Alemany, Carmen; Delvecchio, Maurizio; Pajno, Roberta; Fintini, Danilo; Chowen, Julie A.; Argente, Jesus
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收藏Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry
Dahir, Kathryn M.; Kishnani, Priya S.; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Petryk, Anna; Rockman-Greenberg, Cheryl; Martel, Samantha E.; Ozono, Keiichi; Hoegler, Wolfgang; Seefried, Lothar
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收藏Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results
Forsythe, Elizabeth; Haws, Robert M.; Argente, Jesus; Beales, Philip; Martos-Moreno, Gabriel A.; Dollfus, Helene; Chirila, Costel; Gnanasakthy, Ari; Buckley, Brieana C.; Mallya, Usha G.; Clement, Karine; Haqq, Andrea M.
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收藏Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
Grange, Laura J.; Reynolds, John J.; Ullah, Farid; Isidor, Bertrand; Shearer, Robert F.; Latypova, Xenia; Baxley, Ryan M.; Oliver, Antony W.; Ganesh, Anil; Cooke, Sophie L.; Jhujh, Satpal S.; McNee, Gavin S.; Hollingworth, Robert; Higgs, Martin R.; Natsume, Toyoaki; Khan, Tahir; Martos-Moreno, Gabriel A.; Chupp, Sharon; Mathew, Christopher G.; Parry, David; Simpson, Michael A.; Nahavandi, Nahid; Yuksel, Zafer; Drasdo, Mojgan; Kron, Anja; Vogt, Petra; Jonasson, Annemarie; Seth, Saad Ahmed; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W.; Stegmann, Alexander P. A.; Kanemaki, Masato; Josifova, Dragana; Uchiyama, Yuri; Oh, Yukiko; Morimoto, Akira; Osaka, Hitoshi; Ammous, Zineb; Argente, Jesus; Matsumoto, Naomichi; Stumpel, Constance T. R. M.; Taylor, Alexander M. R.; Jackson, Andrew P.; Bielinsky, Anja-Katrin; Mailand, Niels; Le Caignec, Cedric; Davis, Erica E.; Stewart, Grant S.
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收藏Pappalysins and Stanniocalcins and Their Relationship With the Peripheral IGF Axis in Newborns and During Development
Martin-Rivada, Alvaro; Guerra-Cantera, Santiago; Campillo-Calatayud, Ana; Andres-Esteban, Eva Maria; Holgado, Maria Sanchez; Martos-Moreno, Gabriel A.; Pozo, Jesus; Guemes, Maria; Soriano-Guillen, Leandro; Pellicer, Adelina; Oxvig, Claus; Frystyk, Jan; Chowen, Julie A.; Barrios, Vicente; Argente, Jesus
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收藏Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry全球HPP登记处治疗和未治疗成人低磷酸酯酶症的临床概况
Dahir, Kathryn M.; Seefried, Lothar; Kishnani, Priya S.; Petryk, Anna; Hoegler, Wolfgang; Linglart, Agnes; Martos-Moreno, Gabriel Angel; Ozono, Keiichi; Fang, Shona; Rockman-Greenberg, Cheryl
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收藏Quality of life in patients with Bardet-Biedl syndrome in a setmelanotide phase 3 trial
Forsythe, Elizabeth; Haws, Robert; Argente, Jesus; Beales, Philip; Chirila, Costel; Clement, Karine; Dollfus, Helene; Martos-Moreno, Gabriel; Gnanasakthy, Ari; Buckley, Brieana; Mallya, Usha; Haqq, Andrea
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