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abstractpubmed· Abstract 2019· item PMID:30579583
Early Indicators of Creatine Transporter Deficiency. 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.