ArticleThe Journal of pediatrics2019
Early Indicators of Creatine Transporter Deficiency.
Article in The Journal of pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed.
- Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.Orphanet journal of rare diseases · 2026Observational
- Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.Pediatric neurology · 2026Observational
- Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.Orphanet journal of rare diseases · 2025Article
- Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes.Frontiers in neuroscience · 2025Article
- Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.American journal of medical genetics. Part A · 2024Observational
- Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.Clinical genetics · 2023Article
- Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.Translational pediatrics · 2023Article
- Review
- A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.Scientific reports · 2021Article
- Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a NovelJournal of investigative medicine high impact case reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
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.
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Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.