We report the case of a 28 years old, non-smoker male with a massive pulmonary embolism and left pleural effusion associated and probably induced by olanzapine 10 mg once daily in the previous 4… (More)
INTRODUCTION
Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina.
CASE… (More)
BACKGROUND
Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia,… (More)
Fabry's disease is a rare X-linked, recessive, glycolipid storage disorder. It is caused by the deficient activity of a lysosomal enzyme, alpha-galactosidase A. Deficiency of alpha-GAL causes an… (More)