. . . . . . . . . . . . "[Two CDG-Ia patients, who presented with ataxia and cerebellar hypoplasia and with a normal or only slightly abnormal transferrin but the activity of the corresponding enzyme phosphomannomutase was clearly deficient in leucocytes and fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:32:56+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .