. . . . . . . "[Out of 8 cases with neurological symptoms and low ASA activity, 2 were found to be homozygous for the Pd allele; 2 MLD patients had healthy siblings homozygous for the Pd allele and another patient's allele bore two mutations, Pd and that causing MLD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:10:44+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .