how to cite this article: ghofrani m. lysosomal storage disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):1-2.   for reading more pls see pdf

Cytotoxicity of laronidase (Aldurazyme(®)), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was tested. The enzyme did not cause any cytotoxic effects, and the siRNAs did not inhibit growth of most investigated cell lines. However, some cytotoxic...

Diabetes is disease of both the endo- and exocrine parts pancreas. Pancreatic insufficiency (PEI) can occur in every 2–3 patients with diabetes affect not only quality, but also life expectancy. At same time, diagnosis treatment PEI getting enough attention. The endocrinologist, as main specialist leading diabetes, diagnose treat pancreatic using adequate doses enzyme replacement therapy (PERT).

BACKGROUND Fabry disease is an X-linked disorder of glycosphingolipid catabolism that is the result of an intracellular deficiency in the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). This enzymatic defect results in the accumulation of globotriaosylceramide (Gb(3)) within cells and causes progressive neurological, cardiovascular and renal dysfunction. Our objective is to describe the s...