Background/Aims: To identify the underlying molecular genetic cause of disease in a patient with Harboyan syndrome and to perform a detailed assessment of her renal function. We also ass
Enclosed video sequence 1 and 2 showing a four-chamber view and an isolated view of the left ventricle that depict restrictive cardiac malfunction in left-ventricular non-compaction cardiomyopathy. (Z
We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to
