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Last Updated: 10/31/2025
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Found 108 publications
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
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.
Journal: Neurology. Genetics
Published: December 06, 2024
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.
Journal: Expert opinion on drug discovery
Published: October 15, 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
Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: November 21, 2023
GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management.
Journal: Child neurology open
Published: August 29, 2023
Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.
Journal: Scientific reports
Published: August 10, 2023
Preclinical and clinical developments in enzyme-loaded red blood cells: an update.
Journal: Expert opinion on drug delivery
Published: May 30, 2023
Creatine mapping of the brain at 3T by CEST MRI.
Journal: Magnetic resonance in medicine
Published: May 12, 2023
Last Updated: 10/31/2025