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  • Title: Lactosyl ceramidosis: normal activity for two lactosyl ceramide beta-galactosidases.
    Author: Wenger DA, Sattler M, Clark C, Tanaka H, Suzuki K, Dawson G.
    Journal: Science; 1975 Jun 27; 188(4195):1310-2. PubMed ID: 1145196.
    Abstract:
    Lactosyl ceramide beta-galactosidase activities in the fibroblasts from the previously described patient with so-called "lactosyl ceramidosis" were reexamined with the two recently developed assay methods which appear to measure two genetically distinct enzymes that can degrade this substrate. No deficiency of either of the lactosyl ceramide-cleaving enzymes was observed. In addition, sphingomyelinase activity was only one-sixth of normal, while all other enzymes examined were within the normal ranges.
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