Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.
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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.High prevalence of SLC6A8 deficiency in X-linked mental retardationArginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humansX-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Creatine metabolism and psychiatric disorders: Does creatine supplementation have therapeutic value?Oral creatine monohydrate supplementation improves brain performance: a double-blind, placebo-controlled, cross-over trialCreatine deficiency syndromes and the importance of creatine synthesis in the brainIn vivo magnetic resonance spectroscopy: basic methodology and clinical applicationsMagnetic resonance spectroscopy of the human brain.A guide to the metabolic pathways and function of metabolites observed in human brain 1H magnetic resonance spectra.Clinical proton MR spectroscopy in central nervous system disordersDiagnostic methods and recommendations for the cerebral creatine deficiency syndromes.Effects of creatine and β-guanidinopropionic acid and alterations in creatine transporter and creatine kinases expression in acute seizure and chronic epilepsy models.Sex-specific antidepressant effects of dietary creatine with and without sub-acute fluoxetine in ratsX-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.Creatine and phosphocreatine: a review of their use in exercise and sport.Targeting cellular energy production in neurological disorders.A novel mouse model of creatine transporter deficiency.Neuroimaging of mitochondrial disease.Creatine supplementation associated or not with strength training upon emotional and cognitive measures in older women: a randomized double-blind studyCreatine, Glutamine plus Glutamate, and Macromolecules Are Decreased in the Central White Matter of Premature Neonates around Term.GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress.A Japanese adult case of guanidinoacetate methyltransferase deficiency.Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic Pathways.Transport characteristics of guanidino compounds at the blood-brain barrier and blood-cerebrospinal fluid barrier: relevance to neural disorders.In sickness and in health: the widespread application of creatine supplementation.Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.Creatine supplementation in fibromyalgia: a randomized, double-blind, placebo-controlled trial.The effects of creatine on the retrogradely perfused isolated rat heart.Protective effects of oral creatine supplementation on spinal cord injury in rats.Creatine protects the immature brain from hypoxic-ischemic injury.Plasma guanidino compounds are altered by oral creatine supplementation in healthy humans.Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.No effects of lifelong creatine supplementation on sarcopenia in senescence-accelerated mice (SAMP8).Lower force and impaired performance during high-intensity electrical stimulation in skeletal muscle of GAMT-deficient knockout mice.
P2860
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P2860
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh-hant
name
Creatine replacement therapy i ...... el inborn error of metabolism.
@en
Creatine replacement therapy i ...... el inborn error of metabolism.
@nl
type
label
Creatine replacement therapy i ...... el inborn error of metabolism.
@en
Creatine replacement therapy i ...... el inborn error of metabolism.
@nl
prefLabel
Creatine replacement therapy i ...... el inborn error of metabolism.
@en
Creatine replacement therapy i ...... el inborn error of metabolism.
@nl
P2093
P1433
P1476
Creatine replacement therapy i ...... el inborn error of metabolism.
@en
P2093
P304
P356
10.1016/S0140-6736(96)04116-5
P407
P577
1996-09-01T00:00:00Z