2024
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld E, Rees D, Chonat S, Kuo K, Rothman J, Barcellini W, van Beers E, Pospíšilová D, Shah A, van Wijk R, Glader B, Mañú Pereira M, Andres O, Kalfa T, Eber S, Gallagher P, Kwiatkowski J, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace R. Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. The Lancet Haematology 2024, 11: e228-e239. PMID: 38330977, DOI: 10.1016/s2352-3026(23)00377-0.Peer-Reviewed Original ResearchExpert panelCountry of practiceCare of patientsEvidence-based guidelinesQuality of lifeClinical care of patientsPyruvate kinase deficiencySystematic literature searchDeficient careGuideline methodologistsPK deficiencyClinical careClinical guidelinesInternational expert guidelinesEstimated prevalenceHaemolytic anaemiaConsensus procedureManagement of chronic complicationsDraft recommendationsGRADE methodologyAGREE II frameworkExpert guidelinesLiterature searchClinical practiceInternational guidelines
2013
Applications of high-throughput DNA sequencing to benign hematology
Sankaran VG, Gallagher PG. Applications of high-throughput DNA sequencing to benign hematology. Blood 2013, 122: 3575-3582. PMID: 24021670, PMCID: PMC3837507, DOI: 10.1182/blood-2013-07-460337.Peer-Reviewed Original ResearchConceptsHigh-throughput DNA sequencingDNA sequencingHigh-throughput DNA sequencing technologiesBlood cell lineagesDNA sequencing technologiesWhite blood cell lineagesComplex traitsGene discoverySequencing technologiesCell lineagesSequencingBenign hematologic disordersBenign hematologyDisease-specific complicationsGenomic biomarkersStratification of riskMonitoring of therapyNovel technologySignificant promiseDisease diagnosisRed blood cellsDisease progressionHematologic disordersClinical careTherapeutic strategies