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- W2793195198 abstract "Abstract Background Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Case characteristics 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. Outcome Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems. Message 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." @default.
- W2793195198 created "2018-03-29" @default.
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- W2793195198 date "2018-01-01" @default.
- W2793195198 modified "2023-09-26" @default.
- W2793195198 title "Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder" @default.
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- W2793195198 doi "https://doi.org/10.1007/s13312-018-1232-5" @default.
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