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Advisor(s)
Abstract(s)
The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue. Glycosaminoglycans (formerly called mucopolysaccharides) are also found in the fluid that lubricates our joints.
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Keywords
Mucopolysaccharidoses Portugal MPS Investigação Inherited Metabolic Diseases Doenças Genéticas Genética Humana