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Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 CONT

Sly syndrome, also called mucopolysaccharidosis type VII(MPS VII), is a very rare lysosomal storage disease that has an autosomal-recessive inheritance pattern.... Sly syndrome is caused by deficiency of the enzyme beta-glucuronidase, and it was the first MPS [mucopolysaccharidosis] for which the altered gene was localized to an autosome chromosome, the long arm of chromosome 7...  5, record 1, English, - Sly%20syndrome

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 CONT

La mucopolysaccharidose de type VII (MPS VII) ou [la] maladie de Sly est une maladie de surcharge lysosomale, très rare, du groupe des mucopolysaccharidoses. [...] La maladie est due au déficit en bêta-D-glucuronidase, responsable de l'accumulation dans les lysosomes de divers glycosaminoglycanes [...] La transmission de la MPS VII se fait sur le mode récessif autosomique.  3, record 1, French, - maladie%20de%20Sly

Record 1,  Textual support,  Spanish

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 CONT

Mucopolysaccharidosis type II(MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline.  7, record 2, English, - Hunter%20syndrome

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 CONT

La mucopolysaccharidose de type II est une maladie évolutive, progressive [et] multisystémique. […] Il s'agit d'une maladie génétique transmise sur le mode récessif lié au chromosome X.  5, record 2, French, - maladie%20de%20Hunter

Record 2,  Textual support,  Spanish

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 CONT

My reseach concentrates in the area of human biochemical and molecular genetic studies of lysosomal enzymes involved in dermatan sulfate, heparin, and heparin sulfate degradation. A deficiency in any one of the enzymes causes a human genetic lysosomal storage disease known as mucopolysaccharidosis.  3, record 3, English, - lysosomal%20storage%20disease

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 CONT

Les maladies lysosomales sont des affections monogéniques dues au déficit des enzymes intralysosomales impliquées dans le catabolisme de macromolécules. Leur gravité clinique est l'absence, pour la plupart d'entre elles, de traitement efficace rendant prioritaires les tentatives de mises au point de thérapies géniques.  1, record 3, French, - maladie%20lysosomale

Record 3,  Textual support,  Spanish

Record 4,  Textual support,  English

Record number: 4, Textual support number: 1 CONT

A gel-like found in body cells, mucous secretions, and synovial fluids. When there is a defiency of enzymes necessary to breakdown mucopolysaccharides, a condition called mucopolysaccharidosis(MPS) exists. Mucopolysaccharidosis is a group of genetic disorders that result in excessive accumulation of mucopolysaccharides in body tissus and results in many serious physical disorders.  2, record 4, English, - mucopolysaccharidosis

Record 4,  Textual support,  French

Record number: 4, Textual support number: 1 DEF

Toute maladie caractérisée par l'accumulation de polysaccharides dans l'organisme.  3, record 4, French, - mucopolysaccharidose

Record number: 4, Textual support number: 1 CONT

Les mucopolysaccharidoses (MPS), en particulier, ont bénéficié d'améliorations aussi bien biologiques que cliniques. Parmi les soixante-trois malades ainsi traités en Europe, onze cas de MPS ont vu leurs signes vitaux diminuer.  4, record 4, French, - mucopolysaccharidose

Record 4,  Textual support,  Spanish

Record 5,  Textual support,  English

Record number: 5, Textual support number: 1 DEF

An autosomal recessive inborn a-iduronidase and characterized by progressive mental retardation and physical deterioration, short stature, coarse facies, corneal clouding, dysostosis multiplex, restricted joint mobiligy, and death by the mid-second decade as a result of pulmonary or cardiac complications.  2, record 5, English, - mucopolysaccharidosis%20IH

Record 5,  Textual support,  French

Record 5,  Textual support,  Spanish

Record 6,  Textual support,  English

Record number: 6, Textual support number: 1 DEF

a form of mucopolysaccharidosis transmitted as an autosomal recessive trait, closely resembling Hurler's syndrome, except that the facial deformity is less marked, stiffness of the joints is minimal, and the intellect is not impaired.  1, record 6, English, - Maroteaux%2DLamy%20syndrome

Record 6,  Textual support,  French

Record number: 6, Textual support number: 1 DEF

Trouble du métabolisme des mucopolysaccharides.  2, record 6, French, - syndrome%20de%20Maroteaux%2DLamy

Record 6,  Textual support,  Spanish