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Last Updated: 02/24/2026

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Found 163 publications

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting.

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting.

Journal: Epilepsy currents
Published: January 09, 2026

A mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hyperactivity and cognitive deficits.

A mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hyperactivity and cognitive deficits.

Journal: Brain research
Published: September 30, 2025

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: September 02, 2025

Prominent U-waves Without QT Prolongation in X-linked Creatine Transporter Deficiency Caused by SLC6A8 Variants.

Prominent U-waves Without QT Prolongation in X-linked Creatine Transporter Deficiency Caused by SLC6A8 Variants.

Journal: Heart rhythm
Published: July 15, 2025

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Journal: Heart rhythm
Published: July 15, 2025

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research.

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research.

Journal: Frontiers in neuroscience
Published: April 29, 2025

Evaluation of SLC6A8 species conservation and the effect of pathogenic variants on creatine transport.

Evaluation of SLC6A8 species conservation and the effect of pathogenic variants on creatine transport.

Journal: HGG advances
Published: April 06, 2025

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts.

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts.

Journal: Scientific reports
Published: February 28, 2025

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency.

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency.

Journal: Frontiers in neuroscience
Published: December 19, 2024

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.

Journal: Orphanet journal of rare diseases
Published: December 06, 2024

[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation.

[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation.

Journal: Scientific reports
Published: December 04, 2024

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Journal: Pediatric neurology
Published: November 26, 2024
Showing 1-12 of 163

Last Updated: 02/24/2026