Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
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Autism and Metabolic DiseasesCreatine metabolism and psychiatric disorders: Does creatine supplementation have therapeutic value?Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATMCreatine deficiency syndromes and the importance of creatine synthesis in the brainInborn errors of creatine metabolism and epilepsy.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.International Society of Sports Nutrition position stand: safety and efficacy of creatine supplementation in exercise, sport, and medicineTherapeutic use of creatine in brain or heart ischemia: available data and future perspectives.In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism.The biological basis of injury and neuroprotection in the fetal and neonatal brain.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsFifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?Creatine and guanidinoacetate content of human milk and infant formulas: implications for creatine deficiency syndromes and amino acid metabolism.Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.The arginine-creatine pathway is disturbed in children and adolescents with renal transplants.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Creatine affects in vitro electrophysiological maturation of neuroblasts and protects them from oxidative stress.Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.Disorders of creatine transport and metabolism.
P2860
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P2860
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
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2006年学术文章
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2006年学术文章
@zh-hans
2006年学术文章
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2006年学术文章
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2006年學術文章
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name
Arginine:glycine amidinotransf ...... pic expression of the disease.
@en
Arginine:glycine amidinotransferase
@nl
type
label
Arginine:glycine amidinotransf ...... pic expression of the disease.
@en
Arginine:glycine amidinotransferase
@nl
prefLabel
Arginine:glycine amidinotransf ...... pic expression of the disease.
@en
Arginine:glycine amidinotransferase
@nl
P50
P1476
Arginine:glycine amidinotransf ...... ypic expression of the disease
@en
P2093
Maria C Bianchi
Michela Tosetti
P304
P356
10.1016/J.JPEDS.2006.01.043
P407
P577
2006-06-01T00:00:00Z