2018
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency
Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, del Mar Mañu‐Pereira M, Kalfa TA, Pissard S, Segovia J, van Beers E, Gallagher PG, Rees DC, van Wijk R, with the endorsement of EuroBloodNet T. Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. American Journal Of Hematology 2018, 94: 149-161. PMID: 30358897, PMCID: PMC7344868, DOI: 10.1002/ajh.25325.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Hemolytic, Congenital NonspherocyticArtifactsBlood Cell CountBlood PreservationDNA Mutational AnalysisErythrocytesFalse Negative ReactionsFalse Positive ReactionsHumansPyruvate KinasePyruvate Metabolism, Inborn ErrorsReference ValuesReticulocytesSensitivity and SpecificitySequence Analysis, DNASpectrophotometryTime FactorsConceptsPyruvate kinase deficiency
1991
An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).
Tse W, Gallagher P, Pothier B, Costa F, Scarpa A, Delaunay J, Forget B. An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). Blood 1991, 78: 517-23. PMID: 2070088, DOI: 10.1182/blood.v78.2.517.bloodjournal782517.Peer-Reviewed Original Research