mucopolysaccharidosis iii/edema

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Blood-brain barrier impairment in MPS III patients.

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BACKGROUND Mucopolysaccharidosis type III (MPS III) is an autosomal recessive disorder caused by deficiency of a specific enzyme leading to heparan sulfate (HS) accumulation within cells and to eventual progressive cerebral and systemic organ abnormalities. Different enzyme deficiencies comprise the

Incidence of the mucopolysaccharidoses in Northern Ireland.

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An epidemiological study of the mucopolysaccharidoses (MPS) in Northern Ireland using multiple ascertainment sources was carried out and the incidence rate for the period 1958-1985 was estimated. An incidence of approximately 1 in 76,000 live births was obtained for MPS 1H (Hurler phenotype); 1 in

[Mucopolysaccharidosis. Nosology--clinical aspects--therapeutic approaches].

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The mucopolysaccharidoses represent a group of lysosomal storage disorders characterized by coarse facies, skeletal deformities, and often mental deterioration. Recent clinical and biochemical studies have revealed a broad genetic heterogeneity of these metabolic diseases: An identical enzyme defect

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management.

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Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage diseases (LSD) with multi-organic and severe symptoms. MPS occur worldwide in various forms though have relative a low incidence. The prevalent type of MPS varies among different continents, indicating that it may be associated with

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