Late-Onset Fabry Disease: Diagnostic Challenges and Clinical Evolution. [PDF]
Mejía HPG +7 more
europepmc +1 more source
Genetic and Clinical Characterization of a South-Brazilian Hypertrophic Cardiomyopathy Cohort. [PDF]
Beuren T +7 more
europepmc +1 more source
Variante no descrita previamente en el gen COL3A1: causalidad del Síndrome de Ehlers-Danlos tipo Vascular. [PDF]
Gutiérrez Romero E +2 more
europepmc +1 more source
[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation]. [PDF]
Rojas-Salazar YL +2 more
europepmc +1 more source
Development and evaluation of loop-mediated isothermal amplification (lamp) for rapid detection of campylobacter jejuni. [PDF]
Caro-Castro J +5 more
europepmc +1 more source
Diagnóstico de hemoglobinopatías en el laboratorio clínico: hallazgo de una hemoglobina hofu oculta en HPLC. [PDF]
Echeverría Urroz M +3 more
europepmc +1 more source
PRKAG2 Cardiomyopathy: A Case-Control Study on the Diagnostic Yield Of Histopathology and Ultrastructural Analysis from Endomyocardial Biopsy. [PDF]
Honorato-Sampaio K +11 more
europepmc +1 more source
Non-sustained Ventricular Tachycardia and Hypertrophic Cardiomyopathy: When to Consider it as a Risk Factor for Sudden Death and Total Mortality? [PDF]
Faganello LS, Pimentel M.
europepmc +1 more source
Apical Sparing and Granular Sparkling: Not Everything that Glitters Is Cardiac Amyloidosis. [PDF]
Barros APM +4 more
europepmc +1 more source
Effectiveness of Risdiplam Treatment in Adult Patients With Spinal Muscular Atrophy Type IIb-III. [PDF]
García Estévez DA.
europepmc +1 more source

