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Early Indicators of Creatine Transporter Deficiency.Miller J, Thomas RP, Bennett A, Bianconi S, Bruchey A, Davis RJ, Ficicioglu C, Guthrie W, Porter FD, Thurm AJ. Pediatr. , 2018. Article Pubmed Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.
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