|Title||Early Indicators of Creatine Transporter Deficiency.|
|Publication Type||Journal Article|
|Year of Publication||2019|
|Authors||Miller, JS, Thomas, RP, Bennett, A, Bianconi, S, Bruchey, A, Davis, RJ, Ficicioglu, C, Guthrie, W, Porter, FD, Thurm, A|
|Date Published||2019 Mar|
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.
|Alternate Journal||J. Pediatr.|