Associated Papers
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Abdennadher M et al.
American Journal of Medical Genetics. Part A, 2024
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
37587458 (PubMed )
Supplement: 12864_2023_9561_MOESM1_ESM.xlsx › CuratedVariants
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Levin MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34050321 (PubMed )
Supplement: NIHMS1717831-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
A Treatable Cause of Intellectual Disability and Autism in a Young Child.
Yoganathan S et al.
Indian Journal of Pediatrics, 2020
Creatine transporter deficiency: Novel mutations and functional studies.
Ardon O et al.
Molecular Genetics and Metabolism Reports, 2016
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