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Sly syndrome

syndrome de Sly

santé - iate.europa.eu

Sly Syndrome which is also known by the name of Mucopolysaccharidosis is a progressive congenital disorder which tends to affect almost all of the tissues and organs of the body.

Syndrome de Sly qui est également connu sous le nom de mucopolysaccharidose est un trouble congénital progressif qui tend à affecter la quasi-totalité des tissus et des organes du corps.

général - CCMatrix (Wikipedia + CommonCrawl)

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Missense models [gus(tm(e536a)sly), gus(tm(e536q)sly), and gus(tm(l175f)sly)] of murine mucopolysaccharidosis type vii produced by targeted mutagenesisHuman mucopolysaccharidosis VII (MPS VII, Sly syndrome) results from a deficiency of β-glucuronidase (GUS) and has been associated with a wide range in severity of clinical manifestations....

général - core.ac.uk - PDF: www.pubmedcentral.nih.gov

Enzyme replacement therapy for murine mucopolysaccharidosis type vii leads to improvements in behavior and auditory function.Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is one of a group of lysosomal storage diseases that share many clinical features, including mental retardation and hearing loss....

PDF: www.pubmedcentral.nih.gov

Correction of murine mucopolysaccharidosis vii by a human beta-glucuronidase transgene.... Affected mice, of genotype gusmps/gusmps, present clinical manifestations similar to those of humans with mucopolysaccharidosis VII (Sly syndrome) and are shown here to have secondary elevations of other lysosomal enzymes....

PDF: www.pubmedcentral.nih.gov

Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.... In 7 additional patients a metabolic disorder (phenylketonuria (n = 5), mucopolysaccharidosis type III (Sanfilippo syndrome, type A) (n = 1) and mucopolysaccharidosis type VII (Sly syndrome) (n = 1)) was diagnosed in the past....

PDF: www.loc.gov

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type vii (sly syndrome)... Here, the authors analyze novel pathologic changes in MPS VII (Sly syndrome) to determine the nature of PG-collagen associations in stromal ultrastructure....

PDF: core.ac.uk

Sly syndrome

maladie de Sly

santé - iate.europa.eu

Sly syndrome are similar to those of Hurler syndrome (MPS I)

Les symptômes de la maladie de Sly sont similaires à ceux du syndrome de Hurler (MPS I).

général - CCMatrix (Wikipedia + CommonCrawl)

The symptoms of Sly syndrome are similar to those of Hurler syndrome (MPS I).

Les symptômes de la maladie de Sly sont similaires à ceux du syndrome de Hurler (MPS I).

général - CCMatrix (Wikipedia + CommonCrawl)

The symptoms of Sly syndrome are similar to those of Hurler syndrome (MPS I).

Les symptômes de la maladie de Sly sont très similaires à ceux de la maladie de Hurler (MPS I).

général - CCMatrix (Wikipedia + CommonCrawl)

In Sly syndrome, the deficiency in β-glucuronidase leads to the accumulation of certain complex carbohydrates (mucopolysaccharides) in many tissues and organs of the body.

Dans la maladie de Sly, la déficience en β-glucuronidase entraîne l'accumulation de certains mucopolysaccharides dans divers tissus et organes du corps.

général - CCMatrix (Wikipedia + CommonCrawl)

Sly syndrome