{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["6(4)"],"submitter":["Lamhonwah AM"],"funding":["Rare Diseases Foundation"],"pubmed_abstract":["This boy presented with ADHD at 3 years and at 8 years was hyperactive with no documented hypoglycemia and had myopathy, cardiomyopathy, and very low serum carnitine. L-carnitine improved his exercise intolerance, cardiomyopathy, and behavior. Analysis of <i>SLC22A5</i> revealed a premature stop codon (p.R282*) and a novel in-frame deletion (p.T440-Y449)."],"journal":["Clinical case reports"],"pagination":["585-591"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5889263"],"repository":["biostudies-literature"],"pubmed_title":["Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)."],"pmcid":["PMC5889263"],"pubmed_authors":["Lamhonwah J","Lamhonwah AM","Grubic M","Tein I","Baric I"],"additional_accession":[]},"is_claimable":false,"name":"Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449).","description":"This boy presented with ADHD at 3 years and at 8 years was hyperactive with no documented hypoglycemia and had myopathy, cardiomyopathy, and very low serum carnitine. L-carnitine improved his exercise intolerance, cardiomyopathy, and behavior. Analysis of <i>SLC22A5</i> revealed a premature stop codon (p.R282*) and a novel in-frame deletion (p.T440-Y449).","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Apr","modification":"2025-04-04T13:59:35.291Z","creation":"2019-03-26T23:31:15Z"},"accession":"S-EPMC5889263","cross_references":{"pubmed":["29636919"],"doi":["10.1002/ccr3.1316"]}}