mucopolysaccharidosis type i

Ăvod: MukopolysacharidĂłza I. typu (MPS I) patĹĂ do skupiny lysosomĂĄlnĂch stĹĂĄdavĂ˝ch onemocnÄnĂ, jejichĹž pĹĂÄinou je dÄdiÄnĂĄ porucha enzymu katalyzujĂcĂho odbourĂĄvĂĄnĂ glykosaminoglykanĹŻ, kterĂŠ se hromadĂ v tkĂĄnĂch. OnemocnÄnĂ projevuje rĹŻznou tĂĹžĂ a variabilitou klinickĂ˝ch pĹĂznakĹŻ, jeĹž Äase progredujĂ. Vzhledem k existenci cĂlenĂŠ lĂŠÄby, tj. enzymovĂŠ...

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Structural study on mutant α-l-iduronidases: insight into mucopolysaccharidosis type I

Journal: :Journal of Human Genetics 2008

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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Journal: :Cells 2020

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Glycosaminoglycans and mucopolysaccharidosis type III

Journal: :Frontiers in Bioscience 2016

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Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.

Journal: :American journal of medical genetics. Part A 2014

Felippe Borlot Paula Ricci Arantes Caio Robledo Quaio José Francisco da Silva Franco Charles Marques Lourenço Israel Gomy Debora Romeo Bertola Chong Ae Kim

Mucopolysaccharidosis type IVA is a rare lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 6-sulfatase. Studies usually focus on skeletal abnormalities and their consequences. This study explores the neurological manifestations in a cohort of mucopolysaccharidosis type IVA patients, with a detailed focus on brain and spinal magnetic resonance imaging (MRI) findings. We p...

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