Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study
Grace, Rachael F., Bianchi, Paola, van Beers, Eduard J., Eber, Stefan W., Glader, Bertil, Yaish, Hassan M., Despotovic, Jenny M., Rothman, Jennifer A., Sharma, Mukta, McNaull, Melissa M., Fermo, Elisa, Lezon-Geyda, Kimberly, Morton, D. Holmes, Neufeld, Ellis J., Chonat, Satheesh, Kollmar, Nina, Knoll, Christine M., Kuo, Kevin, Kwiatkowski, Janet L., Pospíšilová, Dagmar, Pastore, Yves D., Thompson, Alexis A., Newburger, Peter E., Ravindranath, Yaddanapudi, Wang, Winfred C., Wlodarski, Marcin W., Wang, Heng, Holzhauer, Susanne, Breakey, Vicky R., Kunz, Joachim, Sheth, Sujit, Rose, Melissa J., Bradeen, Heather A., Neu, Nolan, Guo, Dongjing, Al-Sayegh, Hasan, London, Wendy B., Gallagher, Patrick G., Zanella, Alberto, Barcellini, Wilma
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Published in Blood (17.05.2018)
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Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study
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Comorbidities and complications in adults with pyruvate kinase deficiency
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Pyruvate kinase deficiency in children
Chonat, Satheesh, Eber, Stefan W., Holzhauer, Susanne, Kollmar, Nina, Morton, D. Holmes, Glader, Bertil, Neufeld, Ellis J., Yaish, Hassan M., Rothman, Jennifer A., Sharma, Mukta, Ravindranath, Yaddanapudi, Wang, Heng, Breakey, Vicky R., Sheth, Sujit, Bradeen, Heather A., Al‐Sayegh, Hasan, London, Wendy B., Grace, Rachael F.
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Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis
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Published in Nature genetics (01.06.1996)
Published in Nature genetics (01.06.1996)
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Characterization of the severe phenotype of pyruvate kinase deficiency
Al‐Samkari, Hanny, 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., Pospíšilová, 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.
Published in American journal of hematology (01.10.2020)
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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.
Published in Blood advances (22.03.2022)
Published in Blood advances (22.03.2022)
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Diagnosis and management of pyruvate kinase deficiency: international expert guidelines
Al-Samkari, Hanny, Shehata, Nadine, Lang-Robertson, Kelly, Bianchi, Paola, Glenthøj, Andreas, Sheth, Sujit, Neufeld, Ellis J, Rees, David C, Chonat, Satheesh, Kuo, Kevin H M, Rothman, Jennifer A, Barcellini, Wilma, van Beers, Eduard J, Pospíšilová, Dagmar, Shah, Ami J, van Wijk, Richard, Glader, Bertil, Mañú Pereira, Maria Del Mar, Andres, Oliver, Kalfa, Theodosia A, Eber, Stefan W, Gallagher, Patrick G, Kwiatkowski, Janet L, Galacteros, Frédéric, Lander, Carl, Watson, Alejandra, Elbard, Riyad, Peereboom, Dore, Grace, Rachael F
Published in The Lancet. Haematology (01.03.2024)
Published in The Lancet. Haematology (01.03.2024)
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Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants
Bianchi, Paola, Fermo, Elisa, Lezon-Geyda, Kimberly, Gallagher, Patrick G., Morton, D Holmes, Barcellini, Wilma, Glader, Bertil, Eber, Stefan W., Despotovic, Jenny M., Knoll, Christine M., Yaish, Hassan M., Newburger, Peter E., Rothman, Jennifer, Thompson, Alexis A., Ravindranath, Yaddanapudi, Nottage, Kerri A, Wang, Heng, van Beers, Eduard J., Kunz, Joachim, Wlodarski, Marcin W, Sharma, Mukta, Rose, Melissa J., Pastore, Yves D., Giardina, Patricia J., Rhodes, Melissa, Kuo, Kevin, Guo, Dongjing, London, Wendy B., Grace, Rachael F.
Published in Blood (03.12.2015)
Published in Blood (03.12.2015)
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Immunogenicity of sequential pneumococcal vaccination in subjects splenectomised for hereditary spherocytosis
Stoehr, Gerhard A., Rose, Markus A., Eber, Stefan W., Heidemann, Katrin, Schubert, Ralf, Zielen, Stefan
Published in British journal of haematology (01.03.2006)
Published in British journal of haematology (01.03.2006)
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Near‐total splenectomy for hereditary spherocytosis: clinical prospects in relation to disease severity
Stoehr, Gerhard A., Sobh, Julian N., Luecken, Jan, Heidemann, Kathrin, Mittler, Uwe, Hilgers, Reinhard, Eber, Stefan W.
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Radiographic and MRI features of deferiprone-related arthropathy of the knees in patients with β-thalassemia
KELLENBERGER, Christian J, SCHMUGGE, Markus, SAURENMANN, Traudel, DI GENNARO, Lin, EBER, Stefan W, WILLI, Ulrich V, BABYN, Paul S
Published in American journal of roentgenology (1976) (01.10.2004)
Published in American journal of roentgenology (1976) (01.10.2004)
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Thrombo-embolic disease after splenectomy for hereditary stomatocytosis
Stewart, G W, Amess, J A, Eber, S W, Kingswood, C, Lane, P A, Smith, B D, Mentzer, W C
Published in British journal of haematology (01.05.1996)
Published in British journal of haematology (01.05.1996)
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Simultaneous (AC)n microsatellite polymorphism analysis and single‐stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin‐1 mutations in dominant hereditary spherocytosis
Özcan, Refik, Jarolim, Petr, Lux, Samuel E., Ungewickell, Ernst, Eber, Stefan W.
Published in British journal of haematology (01.08.2003)
Published in British journal of haematology (01.08.2003)
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Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency
Bianchi, Paola, Fermo, Elisa, Kuo, Kevin H.M., Pospíšilová, Dagmar, Glenthoej, Andreas, Lander, Carl, Van Beers, Eduard J., Glader, Bertil, Vives Corrons, Joan-Lluis, Eber, Stefan W, Yan, Yan, McGee, Bryan, Ford, Janet H, Yilmaz, Saliha, Grace, Rachael F.
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Regulation of Band 3 Rotational Mobility by Ankyrin in Intact Human Red Cells
Cho, Michael R, Eber, Stefan W, Liu, Shih-Chun, Lux, Samuel E, Golan, David E
Published in Biochemistry (Easton) (22.12.1998)
Published in Biochemistry (Easton) (22.12.1998)
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Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency
Boscoe, Audra N., Yan, Yan, Hedgeman, Elizabeth, van Beers, Eduard J., Al-Samkari, Hanny, Barcellini, Wilma, Eber, Stefan W., Glader, Bertil, Yaish, Hassan M., Chonat, Satheesh, Rothman, Jennifer A., Sharma, Mukta, Kollmar, Nina, Knoll, Christine M., Kuo, Kevin H.M., Kwiatkowski, Janet L., Pastore, Yves D., Thompson, Alexis A, Ravindranath, Yaddanapudi, Neufeld, Ellis J., Wang, Heng, Holzhauer, Susanne, Breakey, Vicky R., Verhovsek, Madeleine M., Kunz, Joachim B., Sheth, Sujit, McNaull, Melissa A., Rose, Melissa J., Pospisilova, Dagmar, Despotovic, Jenny M., Grace, Rachael F.
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency
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, Suzanne, Breakey, Vicky R., Verhovsek, Madeleine M., Kunz, Joachim B., Sheth, Sujit, Sharma, Mukta, Rose, Melissa J., Bradeen, Heather, McNaull, Melissa A., Addonizio, Kathryn, Al-Sayegh, Hasan, London, Wendy B., Grace, Rachael F.
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Health Related Quality of Life and Fatigue in Patients with Pyruvate Kinase Deficiency
Van Beers, Eduard J., Kuo, Kevin H.M., Morton, D. Holmes, Barcellini, Wilma, Eber, Stefan W., Glader, Bertil, Yaish, Hassan M., Chonat, Satheesh, Kollmar, Nina, Despotovic, Jenny M., Pospisilova, Dagmar, Knoll, Christine M., Kwiatkowski, Janet L., Pastore, Yves D., Thompson, Alexis A., Wang, Winfred, Wlodarski, Marcin W., Newburger, Peter E., Ravindranath, Yaddanapudi, Rothman, Jennifer A., Wang, Heng, Holzhauer, Suzanne, Breakey, Vicky R., Verhovsek, Madeleine M, Kunz, Joachim B., Sheth, Sujit, Sharma, Mukta, Rose, Melissa J., Bradeen, Heather A., McNaull, Melissa A., Addonizio, Kathryn, Williams, David N, Grace, Rachael F.
Published in Blood (29.11.2018)
Published in Blood (29.11.2018)
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