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Last Updated: 03/06/2025

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Found 148 publications

Clinical characterisation of creatine transporter deficiency associated with SLC6A8 gene variants

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

Dodecyl creatine ester, a promising treatment to deliver creatine to neurons, achieves pharmacology efficacy in creatine transporter deficiency.

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.

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.

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

Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report.

Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report.

Journal: Epilepsia open
Published: October 07, 2024

Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.

Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.

Journal: Molecular genetics and metabolism
Published: August 06, 2024

Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations.

Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published: June 22, 2024

Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency.

Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency.

Journal: Psychiatric genetics
Published: June 06, 2024

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model.

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model.

Journal: Neurobiology of disease
Published: June 04, 2024

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Journal: Neurology
Published: March 26, 2024

Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency.

Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency.

Journal: Brain sciences
Published: February 08, 2024

Dodecyl creatine ester therapy: from promise to reality.

Dodecyl creatine ester therapy: from promise to reality.

Journal: Cellular and molecular life sciences : CMLS
Published: January 18, 2024
Showing 1-12 of 148

Last Updated: 03/06/2025