Detecting multiple lysosomal storage diseases
by tandem mass spectrometry - A national newborn screening program in Taiwan.
Results thus far from the ongoing ABO-102 clinical trial support the tolerability of a systemically delivered AAV approach for the treatment of lysosomal storage diseases
, stated Timothy J.
The lysosomal storage diseases
are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people.
Newborn screening for lysosomal storage diseases
(LSDs) has gained interest worldwide with the increasing availability of effective treatment options and accessible screening methods.
It is progressing earlier stage programmes for lysosomal storage diseases
, including next-generation therapeutics for NPC, a rare genetic disorder.
5 Specific histological features can help differentiate hepatitis, cholestatic liver disease, steatosis, vascular abnormalities, infectious diseases, and infiltrative or storage diseases
In several lysosomal storage diseases
, the activity of GCase is reduced due to genetic mutations in the GBA1 gene.
The rare diseases platform will have leading products in the multi-billion-dollar therapeutic areas of hematology, immunology, neuroscience, lysosomal storage diseases
, gastrointestinal/endocrine, and hereditary angioedema (HAE).
Treating lysosomal storage diseases
with pharmacological chaperones: from concept to clinics.
Companies that thought I would be interested in their 14-day CME junket to a "friendly remote sub-tropical region" to hear lectures on metabolic storage diseases
will remove me from that list, but now they include me in mailings to their 13-day CME course in the ice caves of Greenland.
Al Ain: Tawam Hospital has launched a mobile service providing home treatment to patients suffering from metabolic disorder - a cluster of energy utilisation and storage diseases
Dr Brian Bigger, from the University of Manchester's Institute of Human Development who led the research, said bone marrow transplants had been used to correct similar HS storage diseases
, such as Hurler syndrome, by transplanting normal cells with the missing enzyme but the technique did not work with Sanfilippo disease.