Associated Papers
Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts.
Wells C et al.
Plos One, 2025
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
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Rahhal S et al.
Molecular Genetics and Metabolism Reports, 2023
Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review.
Li J et al.
Brain Sciences, 2023
37891751 (PubMed )
Supplement: brainsci-13-01382-s001.zip › brainsci-2561128-supplementary.pdf
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
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Betsalel OT et al.
Molecular Genetics and Metabolism, 2012
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