2018
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV
Ravindranath Y, Johnson RM, Goyette G, Buck S, Gadgeel M, Gallagher PG. KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV. Journal Of Pediatric Hematology/Oncology 2018, 40: e405-e409. PMID: 29300242, PMCID: PMC6092092, DOI: 10.1097/mph.0000000000001056.Peer-Reviewed Original ResearchConceptsCongenital dyserythropoietic anemia type IVClinical courseSevere clinical courseType IVSevere clinical phenotypeIV patientsFetal anemiaTransfusion dependenceFunctional abnormalitiesClinical phenotypePatientsHematologic phenotypeChildrenErythrocyte membranesPhenotypeSplenectomyAnemiaComplete sex reversalFetalisAbnormalities
2016
Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency
Khazal S, Polishchuk V, Manwani D, Gallagher PG, Prinzing S, Mahadeo KM. Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency. Blood 2016, 128: 735-737. PMID: 27297791, DOI: 10.1182/blood-2016-03-702860.Peer-Reviewed Original Research
2014
Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG. Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica 2014, 99: e168-e170. PMID: 24895341, PMCID: PMC4562552, DOI: 10.3324/haematol.2014.110312.Peer-Reviewed Original Research
2009
The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes
Stewart AK, Vandorpe DH, Heneghan JF, Chebib F, Stolpe K, Akhavein A, Edelman EJ, Maksimova Y, Gallagher PG, Alper SL. The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes. American Journal Of Physiology - Cell Physiology 2009, 298: c283-c297. PMID: 19907019, PMCID: PMC2822494, DOI: 10.1152/ajpcell.00444.2009.Peer-Reviewed Original Research4,4'-Diisothiocyanostilbene-2,2'-Disulfonic AcidAmbystoma mexicanumAmino Acid SequenceAmphibiansAnemia, Hemolytic, CongenitalAnimalsAnion Exchange Protein 1, ErythrocyteBicarbonatesBumetanideCell MembraneCell Membrane PermeabilityChloridesCloning, MolecularDNA Mutational AnalysisFemaleGlycophorinsHeterozygoteHumansHydrogen-Ion ConcentrationKineticsMaleMembrane PotentialsMiddle AgedMolecular Sequence DataMutation, MissenseOocytesOuabainOxalic AcidRubidium RadioisotopesSeverity of Illness IndexSodium Potassium Chloride Symporter InhibitorsSodium-Potassium-Exchanging ATPaseSulfatesXenopus laevis
2008
Hereditary spherocytosis
Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. The Lancet 2008, 372: 1411-1426. PMID: 18940465, DOI: 10.1016/s0140-6736(08)61588-3.Peer-Reviewed Original ResearchMeSH KeywordsGallbladder DiseasesHemolysisHumansSeverity of Illness IndexSpherocytosis, HereditarySplenectomyConceptsHereditary spherocytosisHaemolytic anaemiaSevere haemolytic anaemiaCommon inherited disorderErythrocyte transfusionMost patientsAplastic crisisCommon complicationPrimary lesionNorthern European ancestryClinical severityHaemolytic episodeAnemiaInherited disorderIsolated mutationsCareful assessmentSpherocytosisEuropean ancestryDisordersMain causeCholelithiasisSplenectomyJaundiceSplenomegalyTransfusionChanging Patterns in Neonatal Escherichia coli Sepsis and Ampicillin Resistance in the Era of Intrapartum Antibiotic Prophylaxis
Bizzarro MJ, Dembry LM, Baltimore RS, Gallagher PG. Changing Patterns in Neonatal Escherichia coli Sepsis and Ampicillin Resistance in the Era of Intrapartum Antibiotic Prophylaxis. Pediatrics 2008, 121: 689-696. PMID: 18381532, DOI: 10.1542/peds.2007-2171.Peer-Reviewed Original ResearchMeSH KeywordsAmpicillinAmpicillin ResistanceAntibiotic ProphylaxisBacteremiaEscherichia coliEscherichia coli InfectionsFemaleFollow-Up StudiesHumansIncidenceInfant, NewbornInfectious Disease Transmission, VerticalMaleMultivariate AnalysisOdds RatioPregnancyPregnancy Complications, InfectiousPrenatal CareProbabilityRetrospective StudiesRisk AssessmentSeverity of Illness IndexStatistics, NonparametricSurvival RateConceptsE. coli early-onset sepsisEarly-onset sepsisLate-onset sepsisYale-New Haven HospitalIntrapartum antibiotic prophylaxisAntibiotic prophylaxisColi sepsisLow birth weight infantsAmpicillin resistanceAntibiotic prophylaxis practiceIntrapartum antibiotic exposureBirth weight infantsE. coli sepsisIndependent risk factorEscherichia coli sepsisAmpicillin exposureAmpicillin-resistant E. coliProphylaxis practicesSepsis rateWeight infantsNeonatal sepsisPreterm infantsTerm infantsRetrospective reviewRisk factors