MPSI Manifestations and Treatment Outcome: Skeletal Focus
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DOI: 10.3390/ijms231911168
Abstract: Mucopolysaccharidosis type I (MPSI) (OMIM #252800) is an autosomal recessive disorder caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L-iduronidase enzyme. The deficiency of this enzyme causes systemic accumulation of glycosaminoglycans… read more here.
Keywords: treatment outcome; outcome skeletal; manifestations treatment; mpsi manifestations ... See more keywords