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Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency Al-Samkari, Hanny; van Beers, Eduard J.; Morton, D. Holmes; Eber, Stefan W.; Chonat, Satheesh; Kuo, Kevin H. M.; Kollmar, Nina; Wang, Heng; Breakey, Vicky R.; Sheth, Sujit; Sharma, Mukta; Forbes, Peter W.; Klaassen, Robert J.; Grace, Rachael F. 分享 收藏
Characterization of the severe phenotype of pyruvate kinase deficiency 丙酮酸激酶缺乏症严重表型的表征 Al-Samkari, Hanny; van Beers, Eduard J.; Morton, D. Holmes; Barcellini, Wilma; Eber, Stefan W.; Glader, Bertil; Yaish, Hassan M.; Chonat, Satheesh; Kuo, Kevin H. M.; Kollmar, Nina; Despotovic, Jenny M.; Pospisilova, Dagmar; Knoll, Christine M.; Kwiatkowski, Janet L.; Pastore, Yves D.; Thompson, Alexis A.; Wlodarski, Marcin W.; Ravindranath, Yaddanapudi; Rothman, Jennifer A.; Wang, Heng; Holzhauer, Susanne; Breakey, Vicky R.; Verhovsek, Madeleine M.; Kunz, Joachim; Sheth, Sujit; Sharma, Mukta; Rose, Melissa J.; Bradeen, Heather A.; McNaull, Melissa N.; Addonizio, Kathryn; Al-Sayegh, Hasan; London, Wendy B.; Grace, Rachael F. 分享 收藏
Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases Gotru, Sanjeev Kiran; van Geffen, Johanna P.; Nagy, Magdolna; Mammadova-Bach, Elmina; Eilenberger, Julia; Volz, Julia; Manukjan, Georgi; Schulze, Harald; Wagner, Leonard; Eber, Stefan; Schambeck, Christian; Deppermann, Carsten; Brouns, Sanne; Nurden, Paquita; Greinacher, Andreas; Sachs, Ulrich; Nieswandt, Bernhard; Hermanns, Heike M.; Heemskerk, Johan W. M.; Braun, Attila 分享 收藏
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency Bianchi, Paola; Fermo, Elisa; Glader, Bertil; Kanno, Hitoshi; Agarwal, Archana; Barcellini, Wilma; Eber, Stefan; Hoyer, James D.; Kuter, David J.; Maia, Tabita Magalhaes; Manu-Pereira, Maria del Mar; Kalfa, Theodosia A.; Pissard, Serge; Segovia, Jose-Carlos; van Beers, Eduard; Gallagher, Patrick G.; Rees, David C.; van Wijk, Richard 分享 收藏
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study van Beers, Eduard J.; van Straaten, Stephanie; Morton, D. Holmes; Barcellini, Wilma; Eber, Stefan W.; Glader, Bertil; Yaish, Hassan M.; Chonat, Satheesh; Kwiatkowski, Janet L.; Rothman, Jennifer A.; Sharma, Mukta; Neufeld, Ellis J.; Sheth, Sujit; Despotovic, Jenny M.; Kollmar, Nina; Pospisilova, Dagmar; Knoll, Christine M.; Kuo, Kevin; Pastore, Yves D.; Thompson, Alexis A.; Newburger, Peter E.; Ravindranath, Yaddanapudi; Wang, Winfred C.; Wlodarski, Marcin W.; Wang, Heng; Holzhauer, Susanne; Breakey, Vicky R.; Verhovsek, Madeleine; Kunz, Joachim; McNaull, Melissa A.; Rose, Melissa J.; Bradeen, Heather A.; Addonizio, Kathryn; Li, Anran; Al-Sayegh, Hasan; London, Wendy B.; Grace, Rachael F. 分享 收藏
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Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia:: novel truncating mutations in the FGA and FGG genes Neerman-Arbez, M; de Moerloose, P; Honsberger, A; Parlier, G; Arnuti, B; Biron, C; Borg, JY; Eber, S; Meili, E; Peter-Salonen, K; Ripoll, L; Vervel, C; d'Oiron, R; Staeger, P; Antonarakis, SE; Morris, MA 分享 收藏
Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients Willig, TN; Niemeyer, CM; Leblanc, T; Tiemann, C; Robert, A; Budde, J; Lambiliotte, A; Kohne, E; Souillet, G; Eber, S; Stephan, JL; Girot, R; Bordigoni, P; Cornu, G; Blanche, S; Guillard, JM; Mohandas, N; Tchernia, G 分享 收藏
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