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Defective Erythrocyte Pyruvate Kinase with Impaired Kinetics and Reduced Optimal Activity
dc.contributor.authorPaglia, Donald E.en_US
dc.contributor.authorValentine, William N.en_US
dc.contributor.authorRucknagel, Donald L.en_US
dc.contributor.authorWittenberg, Julieen_US
dc.date.accessioned2010-06-01T20:44:31Z
dc.date.available2010-06-01T20:44:31Z
dc.date.issued1972-06en_US
dc.identifier.citationPaglia, Donald E.; Valentine, William N.; Rucknagel, Donald L.; Wittenberg, Julie (1972). "Defective Erythrocyte Pyruvate Kinase with Impaired Kinetics and Reduced Optimal Activity." British Journal of Haematology 22(6): 651-665. <http://hdl.handle.net/2027.42/73844>en_US
dc.identifier.issn0007-1048en_US
dc.identifier.issn1365-2141en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/73844
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=5037872&dopt=citationen_US
dc.description.abstractA unique mutant form of erythrocyte pyruvate kinase has been found associated with chronic haemolytic anaemia in a child who is apparently doubly heterozygous for the mutant isoenzyme and for pyruvate kinase deficiency of the classical quantitative type. Clinical and laboratory findings conformed closely to those typically observed in homozygous pyruvate kinase deficiency anaemia. Assayed in fresh haemolysates, the isoenzyme exhibited reduced optimal activity ( c 45% of normal) and an increased Michaelis constant for phosphoenolpyruvate (four to five times greater than normal). The kinetic anomaly was only partially corrected by activation with fructose-1,6-disphosphate. Despite some common characteristics, this isoenzyme appears distinct from others reported in the literature and lends support to the polymorphous nature of heritable baemolytic anaemias secondary to defective pyruvate kinase.en_US
dc.format.extent921374 bytes
dc.format.extent3109 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherBlackwell Publishing Ltden_US
dc.rights1972en_US
dc.titleDefective Erythrocyte Pyruvate Kinase with Impaired Kinetics and Reduced Optimal Activityen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelOncology and Hematologyen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartments of Medicine and Pathology, Center for the Health Sciences, University of California, Los Angeles; Research and Medical Services, Veterans Administration Center, Los Angeles, California; and Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michiganen_US
dc.identifier.pmid5037872en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/73844/1/j.1365-2141.1972.tb05713.x.pdf
dc.identifier.doi10.1111/j.1365-2141.1972.tb05713.xen_US
dc.identifier.sourceBritish Journal of Haematologyen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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