1.
J Pediatr
; 206: 283-285, 2019 03.
Article
in English
| MEDLINE
| ID: mdl-30579583
ABSTRACT
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.