DGH - Palestras
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Browsing DGH - Palestras by Author "Alves, Sandra"
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- Lysosomal Storage Diseases: an overviewPublication . Alves, SandraLysosomal storage diseases (LSDs)are an heterogenous group rare inherited metabolic diseases caused by mutations mutations in proteins critical critical for lysosomal function.
- Um olhar sobre a investigação das MPS em PortugalPublication . Alves, SandraThe 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.