[An 11-month-old infant, diagnosed with late-onset VLCADD (genotype: T848C/G1322A) through newborn screening at birth, was admitted with emesis, severe lethargy, limpness in extremities, loss of muscle tone and an elevated CK level.]. 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