Science in Rare Diseases
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Gaucher Disease
Gaucher disease is a rare, progressive, inherited, genetic condition that causes a fatty substance, called glucosylceramide ( GL-1), to build up in various tissues including liver, spleen, and bone marrow. Explore this section to know more about Gaucher disease.
Pompe Disease
Pompe disease is an inherited genetic disorder caused by a deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA), which results in build-up of complex sugars (glycogen) in muscle cells throughout the body. Learn more about Pompe disease in this section.
MPS-I
The mucopolysaccharidoses (MPS) family is a group of inherited diseases, each caused by accumulation of various glycosaminoglycans (GAGs) in the lysosomes. One of the important common type of MPS family - MPS I is caused by genetic changes in the IDUA gene. Explore relevant scientific content on MPS-I in this section.
Dried Blood Spot
Dried Blood Spot or DBS has become a convenient tool in both qualitative and quantitative biological analysis of enzymes estimation of LSDs in the last few years. The DBS test is a simplified way to diagnose lysosomal storage disorders. Explore this section to know more about DBS and its applications in LSDs diagnosis.
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