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dc.contributor.authorAydin, Halil Ibrahim
dc.date.accessioned2019-05-22T15:08:45Z
dc.date.available2019-05-22T15:08:45Z
dc.date.issued2018
dc.identifier.issn0019-6061
dc.identifier.urihttps://link.springer.com/content/pdf/10.1007%2Fs13312-018-1232-5.pdf
dc.identifier.urihttp://hdl.handle.net/11727/3295
dc.description.abstractCreatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation. Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems. Serum creatinine levels, creatine peak at brain MR spectroscopy or creatine/creatinine ratio in urine should be evaluated to identify CTD in children with autistic behavior and language disorders.en_US
dc.language.isoengen_US
dc.relation.isversionof10.1007/s13312-018-1232-5en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCreatine deficiency syndromeen_US
dc.subjectInborn errors of metabolismen_US
dc.subjectSLC6A8en_US
dc.titleCreatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorderen_US
dc.typearticleen_US
dc.relation.journalINDIAN PEDIATRICSen_US
dc.identifier.volume55en_US
dc.identifier.issue1en_US
dc.identifier.startpage67en_US
dc.identifier.endpage68en_US
dc.identifier.wos000427607500014


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