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Last Updated: 10/31/2025
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Found 160 publications
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
An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research.
Journal: Frontiers in neuroscience
Published: April 29, 2025
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.
Journal: Frontiers in neuroscience
Published: December 19, 2024
Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.
Journal: Orphanet journal of rare diseases
Published: December 06, 2024
Clinical characterisation of creatine transporter deficiency associated with SLC6A8 gene variants
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: November 20, 2024
Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes.
Journal: Frontiers in neuroscience
Published: October 31, 2024
Dodecyl creatine ester, a promising treatment to deliver creatine to neurons, achieves pharmacology efficacy in creatine transporter deficiency.
Journal: European journal of medicinal chemistry
Published: October 21, 2024
Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.
Journal: ACS chemical biology
Published: October 17, 2024
Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency.
Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024
Last Updated: 10/31/2025