Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement. [PDF]
Ribeiro GNP +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
Nephrocalcinosis: unveiling renal tubulopathies in the genomic era. [PDF]
Ayoub EAM +6 more
europepmc +1 more source
[Cerebrospinal Fluid Biomarker Profile in Atypical Alzheimer's Disease]. [PDF]
Martínez Campos E +3 more
europepmc +1 more source
[Mitochondrial diabetes: From suspicion in primary care to a multidisciplinary family approach]. [PDF]
Macías Martínez BA +3 more
europepmc +1 more source
FENOTIPO CINTURA HIPERTRIGLICERIDÉMICA Y ALTERACIONES
openaire +1 more source
Caracterización genómica de los mecanismos de adaptación de Pseudomonas aeruginosa en pacientes con bronquiectasias. [PDF]
Santa AM +4 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
Beyond Cholesterol and Triglycerides in the Lipid Clinic: The Challenging Task of Identifying Lysosomal Acid Lipase Deficiency. [PDF]
Mizuta MH, Santos RD.
europepmc +1 more source

