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Mucopolysaccharidoses seen in adults in Rheumatology

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The journal Joint Bone Spine has published an article about mucopolysaccharidoses. Mucopolysaccharidoses are a group of rare lysosomal storage diseases including a great number of polymorph syndromes, each being related to a particular mutation responsible for a deficiency of glycosaminoglycan degrading enzymes, leading to an accumulation of glycosaminoglycans in tissues. Many of them are diagnosed in children or teenagers and have a severe prognosis because of organ failure, and are consequently usually not seen by the adult rheumatologist. The full-text article you can find here.

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