A post-mortem study of the brain neurochemistry of a patient with Sanfilippo A syndrome or mucopolysaccharidosis III A is reported. The main findings were: increased glycosaminoglycans, changes in the electrophoretic profile of the water-soluble and membrane-bound proteins, altered concentrations of glycoproteins, lipids and gangliosides and altered lysosomal enzyme activities. The relationship between these complex changes and the specific heparansulfate sulfatase deficiency is discussed. © 1981 Masson Italia Editori.
Federico, A., Robert, J., Zanetta, J.P., Guazzi, G.C. (1981). Sanfilippo A syndrome (mucopolysaccharidosis III A): a neurochemical study. ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2(2), 119-127 [10.1007/BF02335431].
Sanfilippo A syndrome (mucopolysaccharidosis III A): a neurochemical study
Federico, A.;
1981-01-01
Abstract
A post-mortem study of the brain neurochemistry of a patient with Sanfilippo A syndrome or mucopolysaccharidosis III A is reported. The main findings were: increased glycosaminoglycans, changes in the electrophoretic profile of the water-soluble and membrane-bound proteins, altered concentrations of glycoproteins, lipids and gangliosides and altered lysosomal enzyme activities. The relationship between these complex changes and the specific heparansulfate sulfatase deficiency is discussed. © 1981 Masson Italia Editori.
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https://hdl.handle.net/11365/28868
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