Disease on EC 2.1.1.2 - guanidinoacetate N-methyltransferase
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aromatic-l-amino-acid decarboxylase deficiency
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Brain Diseases
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
Carcinoma
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Carcinoma
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Carcinoma, Hepatocellular
Guanidinoacetate methyltransferase activity in tissues and cultured cells.
Diffuse Cerebral Sclerosis of Schilder
Metabolic epilepsies: approaches to a diagnostic challenge.
Epilepsy
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Epilepsy
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
Epilepsy
Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na+, K+-ATPase activity.
Epilepsy
Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.
Epilepsy
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
Epilepsy
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Epilepsy
Intrastriatal Administration of Guanidinoacetate Inhibits Na(+), K (+)-ATPase and Creatine Kinase Activities in Rat Striatum.
Epilepsy
Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum.
Epilepsy
Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.
Epilepsy
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
Genetic Diseases, Inborn
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
Genetic Diseases, Inborn
Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass Spectrometry.
glycine amidinotransferase deficiency
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
glycine amidinotransferase deficiency
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
glycine amidinotransferase deficiency
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
glycine amidinotransferase deficiency
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
glycine n-methyltransferase deficiency
Methyl balance and transmethylation fluxes in humans.
guanidinoacetate n-methyltransferase deficiency
A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency.
guanidinoacetate n-methyltransferase deficiency
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
guanidinoacetate n-methyltransferase deficiency
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
guanidinoacetate n-methyltransferase deficiency
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
guanidinoacetate n-methyltransferase deficiency
Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency.
guanidinoacetate n-methyltransferase deficiency
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.
guanidinoacetate n-methyltransferase deficiency
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.
guanidinoacetate n-methyltransferase deficiency
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
guanidinoacetate n-methyltransferase deficiency
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
guanidinoacetate n-methyltransferase deficiency
Creatine as nutritional supplementation and medicinal product.
guanidinoacetate n-methyltransferase deficiency
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
guanidinoacetate n-methyltransferase deficiency
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.
guanidinoacetate n-methyltransferase deficiency
Creatine metabolism in patients with urea cycle disorders.
guanidinoacetate n-methyltransferase deficiency
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.
guanidinoacetate n-methyltransferase deficiency
Cross-talk between guanidinoacetate neurotoxicity, memory and possible neuroprotective role of creatine.
guanidinoacetate n-methyltransferase deficiency
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na+, K+-ATPase activity.
guanidinoacetate n-methyltransferase deficiency
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
guanidinoacetate n-methyltransferase deficiency
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
guanidinoacetate n-methyltransferase deficiency
First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.
guanidinoacetate n-methyltransferase deficiency
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate administration increases acetylcholinesterase activity in striatum of rats and impairs retention of an inhibitory avoidance task.
guanidinoacetate n-methyltransferase 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.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency (GAMT).
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency: a newly recognized inborn error of creatine biosynthesis.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency: new clinical features.
guanidinoacetate n-methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
guanidinoacetate n-methyltransferase deficiency
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
guanidinoacetate n-methyltransferase deficiency
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
guanidinoacetate n-methyltransferase deficiency
Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.
guanidinoacetate n-methyltransferase deficiency
Intrastriatal Administration of Guanidinoacetate Inhibits Na(+), K (+)-ATPase and Creatine Kinase Activities in Rat Striatum.
guanidinoacetate n-methyltransferase deficiency
Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum.
guanidinoacetate n-methyltransferase deficiency
Investigation of the contribution of total creatine to the CEST Z-spectrum of brain using a knockout mouse model.
guanidinoacetate n-methyltransferase deficiency
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
guanidinoacetate n-methyltransferase deficiency
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
guanidinoacetate n-methyltransferase deficiency
Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.
guanidinoacetate n-methyltransferase deficiency
Methyl balance and transmethylation fluxes in humans.
guanidinoacetate n-methyltransferase deficiency
Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development.
guanidinoacetate n-methyltransferase deficiency
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.
guanidinoacetate n-methyltransferase deficiency
Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid.
guanidinoacetate n-methyltransferase deficiency
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
guanidinoacetate n-methyltransferase deficiency
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene.
guanidinoacetate n-methyltransferase deficiency
Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring.
guanidinoacetate n-methyltransferase deficiency
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
guanidinoacetate n-methyltransferase deficiency
Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency.
guanidinoacetate n-methyltransferase deficiency
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
Gyrate Atrophy
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Heart Diseases
Exploring the protective effects of schizandrol A in acute myocardial ischemia mice by comprehensive metabolomics profiling integrated with molecular mechanism studies.
Hepatolenticular Degeneration
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Homocystinuria
Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.
Intellectual Disability
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Intellectual Disability
Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na+, K+-ATPase activity.
Intellectual Disability
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.
Intellectual Disability
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
Intellectual Disability
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Intellectual Disability
Intrastriatal Administration of Guanidinoacetate Inhibits Na(+), K (+)-ATPase and Creatine Kinase Activities in Rat Striatum.
Intellectual Disability
Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum.
Intellectual Disability
Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass Spectrometry.
Intellectual Disability
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
l-arginine:l-lysine amidinotransferase deficiency
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Language Development Disorders
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
Language Development Disorders
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.
Language Development Disorders
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
Learning Disabilities
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
Metabolism, Inborn Errors
Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease?
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Movement Disorders
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
Movement Disorders
Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
Movement Disorders
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
Movement Disorders
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.
Movement Disorders
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Muscle Hypotonia
Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
Muscle Hypotonia
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
Muscular Dystrophy, Duchenne
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Neoplasms
Does TP53 mutation promote ovarian cancer metastasis to omentum by regulating lipid metabolism?
Neoplasms
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Neoplasms
Human CD133-positive hematopoietic progenitor cells initiate growth and metastasis of colorectal cancer cells.
Neurodegenerative Diseases
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Neuroleptic Malignant Syndrome
Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation.
ornithine aminotransferase deficiency
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Sarcoma
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Sarcoma
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Sarcoma 180
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Sarcoma 180
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Seizures
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.
Seizures
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
Seizures
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
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