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 ResearchConceptsHyperinsulinemic 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 hydrolaseMultiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome
Hong CS, Erson-Omay EZ, Moliterno J. Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome. Surgical Neurology International 2021, 12: 99. PMID: 33880204, PMCID: PMC8053471, DOI: 10.25259/sni_125_2019.Peer-Reviewed Original ResearchLi-Fraumeni syndromeMultiple meningiomasWorld Health Organization grade ITime of presentationCommon intracranial tumorsWhole-exome sequencingGeneralized seizuresPatient populationMedical historyGrade IIntracranial tumorsMeningiomasSyndromeNovel presentationRight hemisphereHeterozygous deletionPatientsTumors
2018
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation
Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation. American Journal Of Kidney Diseases 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.Peer-Reviewed Original ResearchConceptsRenal thrombotic microangiopathyThrombotic microangiopathyTREX1 mutationsRetinal microangiopathyChronic kidney diseaseRepair exonuclease 1Whole-exome sequencingSignificant brainSymptomatic brainTREX1 variantsKidney involvementClinical presentationKidney diseaseCerebral leukodystrophyComplement dysregulationMicroangiopathyClinical importanceDiverse causesComplement regulationNovel presentationSubstantial proportionBrainSignificant proportionGenetic determinantsCause
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