32043619Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFFAmerican journal of hematologyAnemia, Hemolytic, Congenital Nonspherocytic; Genetic Association Studies; Pyruvate Kinase; Pyruvate Metabolism, Inborn ErrorsAdolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Young AdultBianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020 05; 95(5):472-482.Am J Hematol2020-03-06T00:00:002020Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.prns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAuthorshipvivo:hasSubjectAreahas subject areaInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedInformationResourcelinked information resourcerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptD008297Physiology11633280.54802MaleD008875Concepts & IdeasLiving Beings836510.853398Middle AgedD011770Chemicals & DrugsPyruvate KinaseD015323DisordersPyruvate Metabolism, Inborn ErrorsD055815Living Beings966650.815894Young AdultD056726DisordersProcedures18540.966013Genetic Association StudiesD000293Living Beings10621370.61882AdolescentD000328Living Beings11012590.736773AdultAuthorship 74700.3775650.3775651authors10.2515has subject areaD000746DisordersAnemia, Hemolytic, Congenital NonspherocyticD002648Living Beings11632570.520082ChildD002675Living Beings10415030.693171Child, PreschoolD005260Physiology11835990.534568FemaleD006801Living Beings12067970.397999HumansD007223Living Beings9914490.693714InfantD007231Living Beings858280.780221Infant, Newborn