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(mucopolysaccharidosis)
7,415 results
  • Craniosynostosis and metabolic bone disorder. A review. [Journal Article]
    Neurochirurgie 2019Di Rocco F, Rothenbuhler A, … Lingart A
  • CONCLUSIONS: The impact of metabolic synostosis is very variable, depending on the specific underlying metabolic disease, with a large spectrum of morphological and functional consequences. Diagnosis should be early and management should be carried out by a multidisciplinary team with expertise in both rare skeletal disorders and craniosynostosis. The impact of emergent medical therapies recently developed for some of these diseases will be assessed by systematic coherent follow-up of international registries.
  • A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I. [Journal Article]
    J Genet 2019; 98Li Y, Tang X, … Yu X
  • Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in alpha-L-iduronidase (IDUA) gene. IDUA contributes to the degradation of the glycosaminoglycans, including heparan sulphate and dermatan sulphate. Deficient activity of IDUA generates accumulation of glycosaminoglycans in lysosomes leading to MPS I. Here, we identified two boys with MPS I caused by a …
  • Ophthalmological Findings in Mucopolysaccharidoses. [Review]
    J Clin Med 2019; 8(9)Tomatsu S, Pitz S, Hampel U
  • The mucopolysaccharidoses (MPS) are a heterogenous group of lysosomal storage disorders caused by the accumulation of glycosaminoglycans (GAGs). The accrual of these compounds results in phenotypically varied syndromes that produce multi-organ impairment with widespread systemic effects. The low incidence of MPS (approximately 1/25,000 live births) in conjunction with the high childhood mortality…
  • GeneReviews®: Mucopolysaccharidosis Type III [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AWagner VF, Northrup HBOOK
  • Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Dis…
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