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Early Indicators of Creatine Transporter Deficiency.

Judith S Miller, Rebecca P Thomas, Amanda Bennett, Simona Bianconi, Aleksandra Bruchey, Robert J Davis, Can Ficicioglu, Whitney Guthrie, Forbes D Porter, Audrey Thurm
Journal of Pediatrics 2018 December 21
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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