2022
Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families
Banerjee I, Raskin J, Arnoux JB, De Leon DD, Weinzimer SA, Hammer M, Kendall DM, Thornton PS. Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families. Orphanet Journal Of Rare Diseases 2022, 17: 205. PMID: 35585549, PMCID: PMC9118786, DOI: 10.1186/s13023-022-02363-0.Peer-Reviewed Original ResearchBlood sugar levelsBlood sugarLow blood sugarCongenital hyperinsulinismTreatment optionsBrain damageRare diseaseUnmet needLow blood sugar levelsSugar levelsLimited treatment optionsAvailable treatment optionsSpecialized treatment centersBest possible treatmentPerspectives of patientsQuick referralNew medicationsHealthy personsNewborn babiesSide effectsAbnormal releaseBetter outcomesTreatment centersPossible treatmentDevelopmental delayCongenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families
Banerjee I, Raskin J, Arnoux JB, De Leon DD, Weinzimer SA, Hammer M, Kendall DM, Thornton PS. Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families. Orphanet Journal Of Rare Diseases 2022, 17: 61. PMID: 35183224, PMCID: PMC8858501, DOI: 10.1186/s13023-022-02214-y.Peer-Reviewed Original ResearchConceptsBlood glucose monitoringBetter outcomesUnmet needGlucose monitoringLimited treatment optionsLong-term developmental outcomesPerspectives of patientsCare of newbornsKey clinical challengeAdverse eventsSignificant morbidityPersistent hypoglycemiaTreatment optionsNeurological damageSpecialized careSpecialized centersCommon causeCurrent treatmentClinical challengeCongenital hyperinsulinismEarly diagnosisEffective treatmentNeurocognitive impairmentNew therapiesPatients
1997
A syndrome of congenital hyperinsulinism and hyperammonemia
Weinzimer S, Stanley C, Berry G, Yudkoff M, Tuchman M, Thornton P. A syndrome of congenital hyperinsulinism and hyperammonemia. The Journal Of Pediatrics 1997, 130: 661-664. PMID: 9108870, DOI: 10.1016/s0022-3476(97)70256-7.Peer-Reviewed Original ResearchConceptsCongenital hyperinsulinismLarge glycemic responseAcid levelsFree fatty acid levelsUrea cycle enzyme defectsElevated insulin levelsDiagnosis of hyperinsulinismUrinary amino acidsOrotic acid levelsUrinary orotic acid levelsAdministration of glucagonFatty acid levelsAutosomal recessive variantInsulin levelsBenzoate therapyProtein restrictionInsulin secretionUnusual syndromeUrinary organic acidsHyperammonemic disordersGlycemic responseHyperinsulinismPatientsProtein feedingRecessive variants