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Search results for "Mucopolysaccharidosis"

Mucopolysaccharidosis type VI ( Maroteaux-Lamy syndrome; MPS VI ) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase ( arylsulfatase B; ARSB ...


The objective of the study was to analyse diagnostic value of somato-sensory evoked potentials ( SEP ), magnetic resonance imaging ( MRI ), and clinical neurological examination in the decision for de ...


BioMarin has announced that the FDA ( Food and Drug Administration ) has approved Vimizim ( Elosulfase alfa ) for patients with mucopolysaccharidosis type IVA ( MPS IVA; Morquio A syndrome ).Vimizim i ...


Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase alpha-L-iduronidase ( IDUA ). The progressive accumulation ...


Autoinflammation, lipodystrophy, and dermatosis syndrome ( ALDD ) is a systemic inflammatory condition starting within the first months of life, and comprising elevated fever, panniculitis with lipoat ...