Disease: Guanidinoacetate methyltransferase deficiency
- Adult GAMT deficiency: A literature review and report of two siblings
- Cardiac expression and location of hexokinase changes in a mouse model of pure creatine deficiency
- Cerebral Creatine Deficiency Affects the Timing of Oligodendrocyte Myelination
- Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India
- ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
- Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes
- Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants
- Creatine mapping of the brain at 3T by CEST MRI
- Creatine metabolism in patients with urea cycle disorders
- Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids
- Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency
- Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening
- Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells
- Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT
- Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China
- GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management
- Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities
- Guanidinoacetate (GAA) is a potent GABA<sub>A</sub> receptor GABA mimetic: Implications for neurological disease pathology
- Guanidinoacetate Methyltransferase Deficiency: A Treatable Cause of Developmental Delay Diagnosed by Magnetic Resonance Spectroscopy
- Hepatic oleate regulates one-carbon metabolism during high carbohydrate feeding
- Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome
- Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency
- Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine
- Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency
- Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report
- Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase
- Preclinical and clinical developments in enzyme-loaded red blood cells: an update
- Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency
- The exchange rate of creatine CEST in mouse brain