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The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency
dc.contributor.authorAl‐samkari, Hanny
dc.contributor.authorAddonizio, Kathryn
dc.contributor.authorGlader, Bertil
dc.contributor.authorMorton, D. Holmes
dc.contributor.authorChonat, Satheesh
dc.contributor.authorThompson, Alexis A.
dc.contributor.authorKuo, Kevin H. M.
dc.contributor.authorRavindranath, Yaddanapudi
dc.contributor.authorWang, Heng
dc.contributor.authorRothman, Jennifer A.
dc.contributor.authorKwiatkowski, Janet L.
dc.contributor.authorKung, Charles
dc.contributor.authorKosinski, Penelope A.
dc.contributor.authorAl‐sayegh, Hasan
dc.contributor.authorLondon, Wendy B.
dc.contributor.authorGrace, Rachael F.
dc.date.accessioned2021-04-06T02:11:33Z
dc.date.available2022-04-05 22:11:32en
dc.date.available2021-04-06T02:11:33Z
dc.date.issued2021-03
dc.identifier.citationAl‐samkari, Hanny ; Addonizio, Kathryn; Glader, Bertil; Morton, D. Holmes; Chonat, Satheesh; Thompson, Alexis A.; Kuo, Kevin H. M.; Ravindranath, Yaddanapudi; Wang, Heng; Rothman, Jennifer A.; Kwiatkowski, Janet L.; Kung, Charles; Kosinski, Penelope A.; Al‐sayegh, Hasan ; London, Wendy B.; Grace, Rachael F. (2021). "The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency." British Journal of Haematology 192(6): 1092-1096.
dc.identifier.issn0007-1048
dc.identifier.issn1365-2141
dc.identifier.urihttps://hdl.handle.net/2027.42/167062
dc.publisherWiley Periodicals, Inc.
dc.publisherGrune & Stratton Inc.
dc.subject.otherpyruvate kinase
dc.subject.otherpyruvate kinase deficiency
dc.subject.otherhexokinase
dc.subject.otherenzyme assay
dc.subject.otherpyruvate kinase protein
dc.titleThe pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelOncology and Hematology
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/167062/1/bjh16724.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/167062/2/bjh16724_am.pdf
dc.identifier.doi10.1111/bjh.16724
dc.identifier.sourceBritish Journal of Haematology
dc.identifier.citedreferenceWarang P, Kedar P, Ghosh K, Colah R. Molecular and clinical heterogeneity in pyruvate kinase deficiency in India. Blood Cells Mol Dis. 2013; 51: 133 - 7.
dc.identifier.citedreferencePissard S, Max- Audit I, Skopinski L, Vasson A, Vivien P, Bimet C, et al. Pyruvate kinase deficiency in France: a 3- year study reveals 27 new mutations. Br J Haematol. 2006; 133: 683 - 9.
dc.identifier.citedreferenceMentzer WC Jr, Baehner RL, Schmidt- Schonbein H, Robinson SH, Nathan DG. Selective reticulocyte destruction in erythrocyte pyruvate kinase deficiency. J Clin Investig. 1971; 50: 688 - 99.
dc.identifier.citedreferenceBeutler E. Red Cell Metabolism: A Manual of Biochemical Methods. New York: Grune & Stratton Inc.; 1984.
dc.identifier.citedreferenceGrace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018; 131: 2183 - 92.
dc.identifier.citedreferenceGrace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015; 90: 825 - 30.
dc.identifier.citedreferenceBianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019; 94: 149 - 61.
dc.identifier.citedreferenceAl- Samkari H, van Beers EJ, Kuo KH, Barcellini W, Bianchi P, Glenthoj AB, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management. Haematologica. 2020 [Epub ahead of print]. DOI: https://doi.org/10.3324/haematol.2019.240846.
dc.identifier.citedreferenceCarey PJ, Chandler J, Hendrick A, Reid MM, Saunders PW, Tinegate H, et al. Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group. Blood. 2000; 96: 4005 - 6.
dc.identifier.citedreferenceBeutler E, Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood. 2000; 95: 3585 - 8.
dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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