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Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease |
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| Authors: | R Matalon A Dorfman G Dawson C C Sweeley |
| Abstract: | Cultures of skin fiibroblasts from a patient with Fabry's disease showed an accumulation of the glycolipid, galactosyl-galactosyl-glucosyl ceramide. Such cells also showed metachromasia on staining with toluidine blue and a markedly elevated acid mucopolysaccharide content. |
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