Mucopolysaccharidosen

Spranger, Jürgen W.

doi:10.1007/978-3-642-65627-9_8

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Dlscusslon1

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1976

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“…The differential diagnosis of this unique mucopolysaccharidosis includes all of the established disorders (Spranger 1971, Mc Kusick 1972. Hurler's syndrome, which is associated with a marked defect in aiduronidase activity (Matalon et al 1971(Matalon et al , 1972, is similar in its time of onset and severity of the skeletal changes.…”

Section: Dlscusslonmentioning

confidence: 99%

Clinical and biochemical expression of a unique mucopolysaccharidosis

et al. 1976

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A boy who presented with painful joints leading to contractures was found to have a mucopolysaccharidosis not previously described. He had severe dysostosis multiplex of the long bones but nearly normal intellectual development and no involvement of the cornea. Lysosomal storage vacuoles were noted in dermal endothelial cells; these were similar to those seen in the genetic rnucopolysaccharidoses. Mucopolysacchariduria was not excessive in amount but it was distinctly abnormal in pattern and his excretion of dermatan sulfate resembled that found in the Hunter and Hurler syndromes. The activities of the lysosomal hydrolases in cultured fibroblasts were normal or increased. The degradation of accumulated 35S‐mucopolysaccharide in fibroblasts in culture was typical of a mucopolysaccharidosis. His mother accumulated 35S‐mucopolysaccharides in fibroblasts, suggesting an X‐linked inheritance of the disorder.

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Section: Dlscusslonmentioning

confidence: 99%