2022
An update on the diagnosis and treatment of adrenoleukodystrophy
Gujral J, Sethuram S. An update on the diagnosis and treatment of adrenoleukodystrophy. Current Opinion In Endocrinology Diabetes And Obesity 2022, 30: 44-51. PMID: 36373727, DOI: 10.1097/med.0000000000000782.Peer-Reviewed Original ResearchMeSH KeywordsAdrenal InsufficiencyAdrenoleukodystrophyEarly DiagnosisGenetic TherapyHumansInfant, NewbornNeonatal ScreeningConceptsHematopoietic stem cell transplantTreatment optionsOnly successful treatment optionManagement of patientsStem cell transplantRecommended Uniform Screening PanelSuccessful treatment optionPotential treatment optionUniform Screening PanelTreatment of adrenoleukodystrophyAdrenal insufficiencyCell transplantCerebral adrenoleukodystrophyConsensus guidelinesNeurological changesNovel therapiesEarly diagnosisAnimal modelsAmerican AcademyAdrenoleukodystrophyTherapeutic agentsScreening panelDiagnosisTherapyDisease
2021
Neonatal hyperinsulinism in transient and classical forms of tyrosinemia
Sethuram S, Sperling MA, Gujral J, Romero CJ. Neonatal hyperinsulinism in transient and classical forms of tyrosinemia. Orphanet Journal Of Rare Diseases 2021, 16: 190. PMID: 33910593, PMCID: PMC8082838, DOI: 10.1186/s13023-020-01642-y.Peer-Reviewed Original ResearchMeSH KeywordsCongenital HyperinsulinismDiazoxideHumansHyperinsulinismInfantInfant, NewbornLiverTyrosineTyrosinemiasConceptsHyperinsulinemic hypoglycemiaMonths of lifeSpectrum of disordersRare metabolic disorderTransient tyrosinemiaDiazoxide therapyNeonatal periodPersistent hypoglycemiaInsulin secretionMaturational defectNeonatal hyperinsulinismRare caseMetabolic disordersHepatotoxic effectsPatientsBenign conditionsHereditary tyrosinemiaGenetic abnormalitiesBiochemical evaluationNovel presentationTyrosine metabolismEmbryonal originTyrosinemiaEnzyme defectFumarylacetoacetate hydrolase