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mucopolysaccharidosis

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dermatan sulfate

Overview page. Subjects: Chemistry — Medicine and Health.

The glycosaminoglycan composed of repeating units of d-glucuronic acid-N-acetyl-d-galactosamine or l-iduronic acid-N-acetyl-d-galactosamine that is found in the extracellular matrix of...

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heparan sulphate

Overview page. Subjects: Chemistry — Medicine and Health.

Any of a group of glycosaminoglycans consisting of alternating residues of glucosamine and hexuronic acid, usually attached to a protein forming a proteoglycan. Heparan sulphates accumulate...

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Hunter syndrome

Overview page. Subjects: Medicine and Health.

A hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis)....

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Hurler syndrome

Overview page. Subjects: Medicine and Health.

A hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis)....

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Morquio-Brailsford disease

Overview page. Subjects: Medicine and Health — Chemistry.

A defect of mucopolysaccharide metabolism (see inborn error of metabolism) that causes dwarfism with a kyphosis, a short neck, knock-knee, and an angulated sternum in affected children....

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mucolipidosis

Overview page. Subjects: Chemistry — Medicine and Health.

(pl. mucolipidoses)

any of a group of inherited autosomal recessive diseases of humans characterized by deficiency of a variety of lysosomal hydrolases in connective tissue cells...

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mucopolysaccharide storage disease

Overview page. Subjects: Chemistry.

Any of a group of clinically progressive, hereditary diseases of humans characterized by the accumulation of mucopolysaccharides in various tissues. They include the mucopolysaccharidoses...

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mucopolysaccharidosis IH

Overview page. Subjects: Chemistry.

or

a mucopolysaccharidosis caused by a deficiency in lysosomal l‐iduronidase (EC 3.2.1.76) that affects the degradation of both dermatan sulfate and heparan...

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mucopolysaccharidosis IH/S

Overview page. Subjects: Chemistry.

or

a mucopolysaccharidosis caused by the same deficiency in lysosomal l‐iduronidase (EC 3.2.1.76) as is found in mucopolysaccharidoses IH and IS. It is...

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mucopolysaccharidosis II

Overview page. Subjects: Chemistry.

or

a mucopolysaccharidosis caused by a deficiency in iduronate sulfatase that affects the degradation of both dermatan sulfate and heparan sulfate. It is...

See overview in Oxford Index