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

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

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

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.

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

The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG).

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

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

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

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency.

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

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.

GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management.

Creatine mapping of the brain at 3T by CEST MRI.

Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.

Preclinical and clinical developments in enzyme-loaded red blood cells: an update.

Guanidinoacetate Methyltransferase Deficiency: A Treatable Cause of Developmental Delay Diagnosed by Magnetic Resonance Spectroscopy.

Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes.

Guanidinoacetate (GAA) is a potent GABAA receptor GABA mimetic: Implications for neurological disease pathology.

Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids.

Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.

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.

Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities.

Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency.

Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India.

Creatine metabolism in patients with urea cycle disorders.

Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.

Prospective identification by neonatal screening of patients with 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.

Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency.

Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation.

Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice.

Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.

Cross-talk between guanidinoacetate neurotoxicity, memory and possible neuroprotective role of creatine.

Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.

LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency.

First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.

Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.

Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.

Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?

Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism.

Creatine biosynthesis and transport in health and disease.

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

Biosynthesis of homoarginine (hArg) and asymmetric dimethylarginine (ADMA) from acutely and chronically administered free L-arginine in humans.

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Expanded newborn screening by mass spectrometry: New tests, future perspectives.

Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development.