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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| http://dx.doi.org/10.1016/j.jpeds.2018.11.008 | DOI Listing |
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