[The natural (NK), antibody-dependent (K), and interleukin-2-generated (LAK) killer-cell activity of a patient with mucolipidosis III (ML III; an autosomal recessive defect in UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase) was studied to determine whether or not the defect in the phosphorylation of lysosomal enzyme mannose residues resulted in a failure of target-cell lysis, as would be predicted from recent studies showing NK inhibition by phosphorylated sugars, especially mannose-6-phosphate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE