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mucopolysaccharidose de type VII

Sly syndrome

santé - iate.europa.eu

mucopolysaccharidose de type VII

Sly disease

santé - iate.europa.eu

La mucopolysaccharidose de type VII (MPS VII) ou maladie de Sly est une maladie de surcharge lysosomale, très rare, du groupe des mucopolysaccharidoses.

[0007] Mucopolysaccharidosis type VII (MPS VII) or Sly disease is a very rare lysosomal storage disease of the mucopolysaccharidosis group.

général - CCMatrix (Wikipedia + CommonCrawl)

mucopolysaccharidose de type VII

mucopolysaccharidosis type VII

santé - iate.europa.eu

Publications scientifiques

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Production of mps vii mouse (gustm(he540ame536a)sly) doubly tolerant to human and mouse b-glucuronidaseMucopolysaccharidosis VII (MPS VII, Sly syndrome) is an autosomal recessive lysosomal storage disease caused by b-glucuronidase (GUS) deficiency....

général - core.ac.uk - PDF: hmg.oxfordjournals.org

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Neuromuscular degeneration and locomotor deficit in a drosophila model of mucopolysaccharidosis vii is attenuated by treatment with resveratrolMucopolysaccharidosis VII (MPS VII) is a recessively inherited lysosomal storage disorder caused by β-glucuronidase enzyme deficiency....

général - core.ac.uk - PDF: dmm.biologists.org

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Ex vivo gene therapy using patient ipsc-derived nscs reverses pathology in the brain of a homologous mouse model ... We evaluated a complete process of ex vivo gene therapy using human induced pluripotent stem cell (iPSC)-derived NSC transplants in a well-characterized mouse model of a human lysosomal storage disease, Sly disease....

général - core.ac.uk -

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Ex vivo gene therapy using patient ipsc-derived nscs reverses pathology in the brain of a homologous mouse model... We evaluated a complete process of ex vivo gene therapy using human induced pluripotent stem cell (iPSC)-derived NSC transplants in a well-characterized mouse model of a human lysosomal storage disease, Sly disease....

général - core.ac.uk - PDF: doaj.org

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First report on fetal cerebral polyglucosan bodies in mucopolysaccharidosis type viiWe report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis....

général - core.ac.uk - PDF: doaj.org