2022
The role of cardiac magnetic resonance-based feature-tracking strain analysis in the differential diagnosis and prognostic assessment of patients with left ventricular hypertrophy
Dohy Z, Szabo L, Pozsonyi Z, Csecs I, Toth A, Suhai F, Czimbalmos C, Szucs A, Kiss A, Becker D, Merkely B, Vago H. The role of cardiac magnetic resonance-based feature-tracking strain analysis in the differential diagnosis and prognostic assessment of patients with left ventricular hypertrophy. European Heart Journal 2022, 43: ehac544.272. DOI: 10.1093/eurheartj/ehac544.272.Peer-Reviewed Original ResearchFeature-tracking strain analysisCardiac magnetic resonanceLeft ventricular hypertrophyLV hypertrophyMyocardial diseaseHypertrophic cardiomyopathyEndomyocardial fibrosisBasal LSCardiac amyloidosisCA patientsVentricular hypertrophyGlobal dyssynchronyDifferential diagnosisLeft ventricular (LV) hypertrophyPatient populationCardiac magnetic resonance examinationLV stroke volume indexFabry diseasePrognostic assessment of patientsSignificant independent predictors of mortalityIndependent predictor of mortalityEndomyocardial fibrosis patientsLV strain parametersLV) hypertrophyLV strain analysis
2012
A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.
H Mukdsi J, Gutiérrez S, Barrón B, Novoa P, Fernández S, de Diller AB, I Torres A, Formica RN, Orías M. A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation. Journal Of Nephropathology 2012, 1: 194-7. PMID: 24475416, PMCID: PMC3886146, DOI: 10.5812/nephropathol.8123.Peer-Reviewed Case Reports and Technical NotesFabry diseaseRenal variantLong-term followProgressive kidney diseaseYear old manEnzyme replacement therapyΑ-GalA activityRecessive inborn errorPodocyte activationSecond biopsySystemic manifestationsKidney diseaseReplacement therapyHistologic dataDirect DNA sequencingGenetic testingDeficient activityDiseaseElectron microscopic evidenceInborn errorsTherapy treatmentGlycosphingolipid metabolismGene mutationsHemizygote mutationIntracellular inclusions
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