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- W2073093089 abstract "Hurler and Scheie diseases (mucopolysaccharidosis I-H and I-S) are both manifestations of the defective action of alpha-L-iduronidase. Fourteen and nine year old sisters are presented showing excessive 35S-mucopolysaccharide storage and deficient activity of alpha-L-iduronidase in their cultured fibroblasts. Their pattern of clinical and radiographic findings differed from that of both Hurler and Scheie diseases. The intelligence was only moderately impaired. Microscopic and ultrastructural studies demonstrated excessive mucopolysaccharide storage in leucocytes, bone marrow cells and liver cells. Increased amounts of mucopolysaccharides with characteristics of dermatan sulfate and chondroitin sulfate were found in the urine. The condition may be caused by a state of double heterozygosity for the Hurler and Scheie gene (so-called Hurler-Scheie compound)." @default.
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- W2073093089 date "1974-11-01" @default.
- W2073093089 modified "2023-10-18" @default.
- W2073093089 title "Alpha-L-iduronidase deficiency: a spectrum of clinical disorders" @default.
- W2073093089 doi "https://doi.org/10.1203/00006450-197411000-00050" @default.
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