Guanidinoacetate Methyltransferase Deficiency Latest Advances

Find the Latest Research About Guanidinoacetate Methyltransferase Deficiency

Last Updated: 09/26/2026

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Found 113 publications

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency.

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency.

Journal: International journal of molecular sciences
Published: December 23, 2025

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal: Journal of inherited metabolic disease
Published: November 18, 2025

Guanidinoacetate methyltransferase deficiency presenting as epileptic encephalopathy: A clinical vignette.

Guanidinoacetate methyltransferase deficiency presenting as epileptic encephalopathy: A clinical vignette.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published: October 22, 2025

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.

Journal: International journal of molecular sciences
Published: October 15, 2025

Child Neurology: Creatine Biosynthesis Disorder in an Adolescent With Capgras Syndrome and Reduplicative Paramnesia.

Child Neurology: Creatine Biosynthesis Disorder in an Adolescent With Capgras Syndrome and Reduplicative Paramnesia.

Journal: Neurology
Published: April 14, 2025

Two cases of creatine deficiency syndrome caused by GAMT gene mutations and literature review

Two cases of creatine deficiency syndrome caused by GAMT gene mutations and literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: March 19, 2025

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.

Journal: Epilepsia open
Published: December 20, 2024

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

Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency: A Sibling Cohort Study.

Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency: A Sibling Cohort Study.

Journal: Neurology. Genetics
Published: December 06, 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

Targeting AGAT gene expression - a drug screening approach for the treatment of GAMT deficiency.

Targeting AGAT gene expression - a drug screening approach for the treatment of GAMT deficiency.

Journal: Expert opinion on drug discovery
Published: October 15, 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
Showing 1-12 of 113

Last Updated: 09/26/2026