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Dhahran, Saudi Arabia Clinical Trials

A listing of Dhahran, Saudi Arabia clinical trials actively recruiting patients volunteers.

RESULTS

Found (3) clinical trials

Biomarker for Pompe Disease

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal dis-order that disables the heart and muscles. It is caused by mutations in a gene that encodes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, the long-term storage ...

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Biomarker for Morquio Disease

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide stor-age disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal ...

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Biomarker for Maroteaux-Lamy Disease

Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate breakdown with lysosomal accumulation. This accumulation of glycosaminoglycans is responsible for the widespread ...

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