[Lactate concentrations in blood and CSF should be measured in female patients with West syndrome as a screening test for PDHC deficiency, because of gender-specific occurrence of West syndrome caused by PDHC deficiency.]. 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