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- W2023556963 abstract "Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase." @default.
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- W2023556963 date "1977-01-01" @default.
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- W2023556963 title "Mucolipidosis I — A sialidosis" @default.
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- W2023556963 doi "https://doi.org/10.1002/ajmg.1320010104" @default.
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