Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
about
Autism and Metabolic DiseasesX-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 humansCreatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.Creatine deficiency syndromes and the importance of creatine synthesis in the brainCyclocreatine treatment improves cognition in mice with creatine transporter deficiencyInborn errors of creatine metabolism and epilepsy.Diagnostic 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.Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.Genetics and pathophysiology of mental retardation.Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?Creatine prevents the inhibition of energy metabolism and lipid peroxidation in rats subjected to GAA administration.Effects in vitro of guanidinoacetate on adenine nucleotide hydrolysis and acetylcholinesterase activity in tissues from adult rats.Is ATP elevated in patients with GAMT deficiency?Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
P2860
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P2860
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Creatine deficiency syndrome c ...... ew inborn error of metabolism.
@en
Creatine deficiency syndrome c ...... ew inborn error of metabolism.
@nl
type
label
Creatine deficiency syndrome c ...... ew inborn error of metabolism.
@en
Creatine deficiency syndrome c ...... ew inborn error of metabolism.
@nl
prefLabel
Creatine deficiency syndrome c ...... ew inborn error of metabolism.
@en
Creatine deficiency syndrome c ...... ew inborn error of metabolism.
@nl
P2093
P1476
Creatine deficiency syndrome c ...... new inborn error of metabolism
@en
P2093
B Marescau
E Mayatepek
H J Bremer
P P De Deyn
P304
P356
10.1016/S0022-3476(97)70075-1
P407
P577
1997-10-01T00:00:00Z