Search Results - "Kollmar, Nina"

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study by 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

“…An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency,…”
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Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency by Bianchi, Paola, Fermo, Elisa, Lezon‐Geyda, Kimberly, Beers, Eduard J., Morton, Holmes D., Barcellini, Wilma, Glader, Bertil, Chonat, Satheesh, Ravindranath, Yaddanapudi, Newburger, Peter E., Kollmar, Nina, Despotovic, Jenny M., Verhovsek, Madeleine, Sharma, Mukta, Kwiatkowski, Janet L., Kuo, Kevin H. M., Wlodarski, Marcin W., Yaish, Hassan M., Holzhauer, Susanne, Wang, Heng, Kunz, Joachim, Addonizio, Kathryn, Al‐Sayegh, Hasan, London, Wendy B., Andres, Oliver, Wijk, Richard, Gallagher, Patrick G., Grace, Rachael F. F.

“…Pyruvate kinase (PK) deficiency is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. This study reports the molecular features…”
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Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study by 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, Pospíšilová, 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

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The German sickle cell disease registry reveals a surprising risk of acute splenic sequestration and an increased transfusion requirement in patients with compound heterozygous sickle cell disease HbS/β‐thalassaemia and no or low HbA expression by Allard, Pierre, Tagliaferri, Laura, Weru, Vivienn, Cario, Holger, Lobitz, Stephan, Jarisch, Andrea, Kopp‐Schneider, Annette, Lassay, Lisa, Kontny, Udo, Frühwald, Michael, Westphal, Silke, Schulte, Johannes, Oevermann, Lena, Hakimeh, Dani, Eckert, Maike, Khurana, Claudia, Calaminus, Gabriele, Eberl, Wolfgang, Mudler, Astrid, Scheer‐Preis, Johanna, Eberling, Torsten, Pekrun, Arnulf, Fröhling, Stefan, Bernbeck, Benedikt, Lara‐Villacanas, Eusebia, Westkemper, Marco, Brummel, Bastian, Naumann‐Bartsch, Nora, Zierk, Jakob, Aramayo‐Singelmann, Carmen, Jarisch, Andrea, Erlacher, Miriam, Mauz‐Körholz, Christine, Meinhardt, Andrea, Ströter, Natascha, Körholz, Dieter, Hauch, Holger, Kullmann, Silke, Kühnle, Ingrid, Ebert, Sabine, Asemissen, Anne Marie, Beilken, Andreas, Lamottke, Britta, Maecker‐Kolhoff, Britta, Sander, Annette, Sauer, Martin, Kunz, Joachim, Tagliaferri, Laura, Allard, Pierre, Full, Hermann, Simon, Arne, Krenn, Thomas, Leipold, Alfred, Lacroix, Jeannine, Hartel, Simone, Nathrath, Michaela, Rodehüser, Martina, Vieth, Simon, Heydrich‐Karsten, Christiane, Lobitz, Stephan, Behr, Ümmügül, Ziehe, Christine, Balzer, Stephan, Belke, Luisa, Simon, Thorsten, Hero, Barbara, Christiansen, Holger, Fischer, Lars, Starke, Sven, Faber, Jörg, Wingerter, Arthur, El Malki, Khalifa, Otto, Henrike, Robinson, Abigale, Theisen‐Riedel, Marie, Dürken, Matthias, Karremann, Michael, El‐Hilali, Marie‐Luise, Albert, Michael, Meilbeck, Rita, Schenk, Daniela, Wawer, Angela, Rössig, Claudia, Corbacioglu, Selim, Föll, Jürgen, Kramer, Sonja, Tröger, Anja, Kietz, Silke, Classen, Carl Friedrich, Schütte, Peter, Reinhard, Harald, Blattmann, Claudia, Knirsch, Stephanie, Ebinger, Martin, Holzer, Ursula, Brecht, Ines, Lang, Peter, Döring, Michaela, Cario, Holger, Pritschow, Yvonne

“…Patients with sickle cell disease (SCD) in Germany exhibit a substantial genetic diversity in the β‐globin genotype. Data collected by the national German SCD…”
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Pyruvate kinase deficiency in children by 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.

“…Background Pyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and…”
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Characterization of the severe phenotype of pyruvate kinase deficiency by 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.

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Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency by 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.

“…Background: Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia. The spectrum of disease in PKD is…”
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Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency by 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.

“…Introduction: Pyruvate kinase (PK) deficiency causes a defect in the glycolytic pathway, leading to a hereditary hemolytic anemia. Management is supportive and…”
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Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency by 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.

“…Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic hemolytic anemia. Although recognition of the disease spectrum has…”
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Health Related Quality of Life and Fatigue in Patients with Pyruvate Kinase Deficiency by 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.

“…Background: Pyruvate Kinase (PK) deficiency is the most common enzyme defect of the glycolytic pathway causing hereditary non-spherocytic hemolytic anemia…”
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Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study by Bianchi, Paola, Fermo, Elisa, Lezon-Geyda, Kimberly, Gallagher, Patrick G., van Wijk, Richard, Van Beers, Eduard J., Yaish, Hassan M., Kwiatkowski, Janet L., Newburger, Peter E., Ravindranath, Yaddanapudi, Andres, Oliver, Barcellini, Wilma, Morton, D. Holmes, Glader, Bertil, Eber, Stefan W., Chonat, Satheesh, Kollmar, Nina, Despotovic, Jenny M., Knoll, Christine M., Kuo, Kevin H.M., Pospisilova, Dagmar, Pastore, Yves D., Thompson, Alexis A, Wang, Winfred, Wlodarski, Marcin W., Rothman, Jennifer A., Wang, Heng, Holzhauer, Suzanne, Breakey, Vicky R., Kunz, Joachim B., Sheth, Sujit, Sharma, Mukta, Rose, Melissa J., Bradeen, Heather A., McNaull, Melissa N., Ooyama, Gabrielle P., Neu, Nolan, Al-Sayegh, Hasan, London, Wendy B., Grace, Rachael F.

“…Background: Pyruvate kinase (PK) deficiency is the most common enzyme defect of the glycolytic pathway causing hereditary non-spherocytic hemolytic anemia. PK…”
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Iron Overload Is Highly Prevalent in All Disease Severity States in Pyruvate Kinase Deficiency (PKD) by van Beers, Eduard J, Barcellini, Wilma, Eber, Stefan W., Kwiatkowski, Janet L, Rothman, Jennifer A, Neufeld, Ellis J, Sharma, Mukta, Morton, D Holmes, Glader, Bertil, Kollmar, Nina, Yaish, Hassan M., Despotovic, Jenny M., Knoll, Christine M., Pastore, Yves D., Kuo, Kevin, Newburger, Peter E., Wlodarski, Marcin W, Thompson, Alexis A., Ravindranath, Yaddanapudi, Wang, Winfred C., Wang, Heng, Kunz, Joachim B., Breakey, Vicky R., Rose, Melissa J., Rhodes, Melissa, Bradeen, Heather A, Sheth, Sujit, Guo, Dongjing, London, Wendy B., Grace, Rachael F.

“…▪ Background: PKD causes a defect in glycolysis resulting in a hereditary non-spherocytic hemolytic anemia. The prevalence of iron overload is not well…”
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Mucormycosis in paediatric patients: demographics, risk factors and outcome of 12 contemporary cases by Däbritz, Jan, Attarbaschi, Andishe, Tintelnot, Kathrin, Kollmar, Nina, Kremens, Bernhard, Loewenich, Friederike D. v., Schrod, Lothar, Schuster, Friedhelm, Wintergerst, Uwe, Weig, Michael, Lehrnbecher, Thomas, Groll, Andreas H.

“…Summary Mucormycosis is associated with high morbidity and mortality and is perceived as an emerging fungal infection. However, contemporary paediatric data…”
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Pyruvatkinasemangel der Erythrozyten in Deutschland: Klinische Merkmale und Lebensqualität der Patienten by Klothaki, Paraskevi, Grace, Rachael, Eber, Stefan, Puzik, Alexander, Kunz, Joachim, Burdach, Stefan, Andres, Oliver, Nathrath, Michaela, Kollmar, Nina

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Mucormycosis in paediatric patients: demographics, risk factors and outcome of 12 contemporary cases: Mucormycosis in paediatric patients by Däbritz, Jan, Attarbaschi, Andishe, Tintelnot, Kathrin, Kollmar, Nina, Kremens, Bernhard, Loewenich, Friederike D. v., Schrod, Lothar, Schuster, Friedhelm, Wintergerst, Uwe, Weig, Michael, Lehrnbecher, Thomas, Groll, Andreas H.

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