| 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 |
| Journal | J Pediatr |
| Volume | 206 |
| Pagination | 283-285 |
| Date Published | 2019 Mar |
| ISSN | 1097-6833 |
| 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. |
| DOI | 10.1016/j.jpeds.2018.11.008 |
| Alternate Journal | J. Pediatr. |
| PubMed ID | 30579583 |
| PubMed Central ID | PMC6693671 |
| Grant List | Z99 MH999999 / / Intramural NIH HHS / United States R03 MH116356 / MH / NIMH NIH HHS / United States L40 HD045451 / HD / NICHD NIH HHS / United States ZIC MH002961-01 / / Intramural NIH HHS / United States U54 HD086984 / HD / NICHD NIH HHS / United States |