Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
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DOI: 10.1186/s13052-018-0553-2
Abstract: Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). They are all monogenic defects, transmitted in an autosomal recessive… read more here.
Keywords: analysis mucopolysaccharidoses; mucopolysaccharidoses paediatrician; paediatrician must; analysis ... See more keywords