Associated Papers
ProteoMutaMetrics: machine learning approaches for solute carrier family 6 mutation pathogenicity prediction.
Huang J et al.
Rsc Advances, 2024
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E et al.
Journal of Molecular Biology, 2024
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
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Bruun TUJ et al.
Metabolic Brain Disease, 2018
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