Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?
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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 synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.Creatine deficiency syndromes and the importance of creatine synthesis in the brainCreatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiencyIn vivo magnetic resonance spectroscopy: basic methodology and clinical applicationsCyclocreatine 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.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.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.A novel mouse model of creatine transporter deficiency.Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.Transport characteristics of guanidino compounds at the blood-brain barrier and blood-cerebrospinal fluid barrier: relevance to neural disorders.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?A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.Creatine transporter expression after antidepressant therapy in rats bred for learned helplessness.Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation.Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.The Blood–Brain Barrier Creatine Transporter is a Major Pathway for Supplying Creatine to the Brain
P2860
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P2860
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Irreversible brain creatine de ...... a creatine transporter defect?
@ast
Irreversible brain creatine de ...... a creatine transporter defect?
@en
type
label
Irreversible brain creatine de ...... a creatine transporter defect?
@ast
Irreversible brain creatine de ...... a creatine transporter defect?
@en
prefLabel
Irreversible brain creatine de ...... a creatine transporter defect?
@ast
Irreversible brain creatine de ...... a creatine transporter defect?
@en
P2093
P2860
P356
P1433
P1476
Irreversible brain creatine de ...... a creatine transporter defect?
@en
P2093
Ball WS Jr
DeGrauw TJ
Salomons GS
Verhoeven NM
P2860
P304
P356
10.1002/ANA.79
P577
2001-03-01T00:00:00Z