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- W148756475 abstract "This chapter outlines the features of urinary glycocojugate in mucolipidoses I–IV. Mucolipidoses exhibit signs and symptoms of both mucopolysaccharidoses and sphingolipidoses, but the patients with mucolipidoses generally have normal excretion of glycosaminoglycans. The storage of gangliosides has been observed in mucolipidosis-IV fibroblasts and increased levels of sialic acid has been observed in mucolipidoses-I and -II fibroblasts. This pathological storage originates from α-neuraminidase deficiencies and is accompanied by a massive excretion of sialic acid-containing oligosaccharides in I-Cell disease. This chapter discusses a study to investigate the excretion of sialic acid-containing glycoconjugates in all the reported forms of mucolipidoses. In the study, mucolipidoses I and II were characterized by an important increase (ca. 3-fold) in the excretion of all the constituents of the non-ultrafiltrable fraction (mainly sialic acid). In mucolipidosis I, however, specific increases were also observed for galactosamine and threonine, whereas nearly normal ratios were observed for these constituents in I-Cell disease." @default.
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- W148756475 date "1979-01-01" @default.
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- W148756475 title "Characterization of Urinary Glycoconjugates in Mucolipidoses I-IV" @default.
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- W148756475 doi "https://doi.org/10.1016/b978-0-12-301302-6.50067-1" @default.
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