In particular context of Lysosomal Storage Disorders
, they said immediate and pressing need however is that the government should work out a scheme to provide free treatment, mainly enzyme therapy, for such patients, as the numbers of cases with such disorder are few and manageable.
Newborn screening activities to detect lysosomal storage disorders
(NBS-LSD) have generated a great deal of discussion worldwide.
It was reported on Friday that the collaboration is aimed at small molecule treatments for lysosomal storage disorders
, which are considered as the rare genetic diseases.
These patients are suffering from a category of rare genetic diseases called 'Lysosomal Storage Disorders
Trials in cystic fibrosis are ongoing and additional preclinical data are being generated in the areas of arthritis, hemophilia, lysosomal storage disorders
and AIDS prophylaxis.
KARACHI -- Experts taking exception to rampant trend of consanguineous marriages in many of the local communities said it has led to series of rare metabolic diseases among the children including that of Lysosomal Storage Disorders
With specific reference to Lysosomal Storage Disorders
(LSD), a serious and life threatening genetic disorder, he said there were about 45 disorders in the LSDs category.
Newborn screening for neuropathic lysosomal storage disorders
. J Inherit Metab Dis 2010;33:381-6.
In the new paper, the lab found that the prescription drugs diltiazem and verapamil were effective in restoring partial cellular folding, trafficking, and function to mutant enzymes responsible for three lysosomal storage disorders
, including Gaucher's disease.
Genzyme General has conducted seven clinical trials in cystic fibrosis and is currently developing gene therapies for a class of genetic diseases known as lysosomal storage disorders
, initially focusing on Fabry and Gaucher diseases.