Early Indicators of Creatine Transporter Deficiency.

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TitleEarly Indicators of Creatine Transporter Deficiency.
Publication TypeJournal Article
Year of Publication2019
AuthorsMiller, JS, Thomas, RP, Bennett, A, Bianconi, S, Bruchey, A, Davis, RJ, Ficicioglu, C, Guthrie, W, Porter, FD, Thurm, A
JournalJ Pediatr
Volume206
Pagination283-285
Date Published2019 Mar
ISSN1097-6833
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.

DOI10.1016/j.jpeds.2018.11.008
Alternate JournalJ. Pediatr.
PubMed ID30579583
PubMed Central IDPMC6693671
Grant ListZ99 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