Sökresultat - Kathryn Addonizio
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1
Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency av Paola Bianchi, Elisa Fermo, Kimberly Lezon-Geyda, Eduard J. van Beers, Holmes Morton, Wilma Barcellini, Bertil Glader, Satheesh Chonat, Yaddanapudi Ravindranath, Peter E. Newburger, Nina Kollmar, Jenny M. Despotovic, Madeleine Verhovsek, Mukta Sharma, Janet L. Kwiatkowski, Kevin H.M. Kuo, Marcin W. Włodarski, Hassan M. Yaish, Susanne Holzhauer, Heng Wang, Joachim B. Kunz, Kathryn Addonizio, Hasan Al‐Sayegh, Wendy B. London, Oliver Andrés, Richard van Wijk, Patrick G. Gallagher, Rachael F. Grace
Publicerad 2020Artigo -
2
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study av Eduard J. van Beers, Stephanie van Straaten, D. Holmes Morton, Wilma Barcellini, Stefan Eber, Bertil Glader, Hassan M. Yaish, Satheesh Chonat, Janet L. Kwiatkowski, Jennifer Rothman, Mukta Sharma, Ellis J. Neufeld, Sujit Sheth, Jenny M. Despotovic, Nina Kollmar, Dagmar Pospı́šilová, Christine Knoll, Kevin H.M. Kuo, Yves D. Pastore, Alexis A. Thompson, Peter E. Newburger, Yaddanapudi Ravindranath, Winfred C. Wang, Marcin W. Włodarski, Heng Wang, Susanne Holzhauer, Vicky R. Breakey, Madeleine Verhovsek, Joachim B. Kunz, Melissa A. McNaull, Melissa J. Rose, Heather A. Bradeen, Kathryn Addonizio, Anran Li, Hasan Al‐Sayegh, Wendy B. London, Rachael F. Grace
Publicerad 2018Carta
Sökverktyg:
Relaterade ämnen
Glycolysis
Internal medicine
Medicine
Pyruvate kinase
Pyruvate kinase deficiency
Allele
Biochemistry
Biology
Chemistry
Compound heterozygosity
Dihydrolipoyl transacetylase
Enzyme
Gene
Genetics
Genotype
Hemolytic anemia
Metabolism
Missense mutation
Mutation
Natural history
PKM2
Pyruvate decarboxylation
Pyruvate dehydrogenase complex