Disease: L-arginine:glycine amidinotransferase (AGAT) deficiency
- A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
- AGAT knockout mice provide an opportunity to titrate tissue creatine content
- AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review
- Analysis of L-arginine:glycine amidinotransferase-, creatine- and homoarginine-dependent gene regulation in the murine heart
- Arginine supplementation in four patients with X-linked creatine transporter defect
- Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM
- Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease
- Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy
- Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
- Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy
- Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans
- Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency
- Biochemical and clinical characteristics of creatine deficiency syndromes
- Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
- Biosynthesis of homoarginine (hArg) and asymmetric dimethylarginine (ADMA) from acutely and chronically administered free L-arginine in humans
- Cardiac expression and location of hexokinase changes in a mouse model of pure creatine deficiency
- Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders
- Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology
- Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease
- ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
- Clinical applications of creatine supplementation on paediatrics
- Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
- Creatine and creatine deficiency syndromes: biochemical and clinical aspects
- Creatine biosynthesis and transport in health and disease
- Creatine Deficiency Disorders
- Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes
- Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency
- Creatine deficiency syndromes
- Creatine deficiency syndromes
- Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree
- Creatine metabolism in urea cycle defects
- Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
- Creatine, guanidinoacetate and homoarginine in statin-induced myopathy
- Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse
- Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency
- Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency
- Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes
- Differential regulation of AMPK activation in leptin- and creatine-deficient mice
- Disorders of creatine transport and metabolism
- Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake
- Effects of Dietary Methionine or Arginine Levels on the Urinary Creatinine Excretion in Broiler Chicks
- Expression of cardiovascular-related microRNAs is altered in L-arginine:glycine amidinotransferase deficient mice
- Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency
- Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency
- Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies
- Homoarginine and creatine deficiency do not exacerbate murine ischaemic heart failure
- Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency
- Inborn errors of creatine metabolism and epilepsy
- Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment
- Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
- l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation
- L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
- L-homoarginine and cardiovascular disease
- Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
- Laboratory diagnosis of defects of creatine biosynthesis and transport
- LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step
- Marker enzyme activities in hindleg from creatine-deficient AGAT and GAMT KO mice - differences between models, muscles, and sexes
- Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure
- Pre-symptomatic treatment of creatine biosynthesis defects
- Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice
- Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine
- Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes
- Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry
- Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
- Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency
- Transcriptomic and metabolic analyses reveal salvage pathways in creatine-deficient AGAT(-/-) mice
- Upregulation of AGAT as a Possible Target in Molecular Nutrition