X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
about
Autism and Metabolic DiseasesThe cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporterMutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationHigh prevalence of SLC6A8 deficiency in X-linked mental retardationArginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humansContiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disordersX-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 synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transportersFragile X and X-linked intellectual disability: four decades of discoveryA competitive inhibitor traps LeuT in an open-to-out conformation.Creatine deficiency syndromes and the importance of creatine synthesis in the brainHomozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsCreatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiencyInborn errors of creatine metabolism and epilepsy.A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.A guide to the metabolic pathways and function of metabolites observed in human brain 1H magnetic resonance spectra.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.New Financial and Research Models for Pediatric Orphan Drug Development - Focus on the NCATS TRND ProgramEffects of creatine and β-guanidinopropionic acid and alterations in creatine transporter and creatine kinases expression in acute seizure and chronic epilepsy models.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.Targeting cellular energy production in neurological disorders.The genetic basis of non-syndromic intellectual disability: a reviewAutism-lessons from the X chromosome.Gatm, a creatine synthesis enzyme, is imprinted in mouse placentaExtracellular metabolic energetics can promote cancer progressionLong-term follow-up and treatment in nine boys with X-linked creatine transporter defect.Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause GlucosuriaRegulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophreniaX linked mental retardation: a clinical guide.The solute carrier 6 family of transportersNeuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsThe creatine transporter gene paralogous at 16p11.2 is expressed in human brain.Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.
P2860
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P2860
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
description
2001 nî lūn-bûn
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2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2001 թվականի ապրիլին հրատարակված գիտական հոդված
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2001年の論文
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2001年学术文章
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2001年学术文章
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name
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome
@nl
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@ast
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@en
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@en-gb
type
label
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome
@nl
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@ast
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@en
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@en-gb
prefLabel
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome
@nl
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@ast
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@en
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
@en-gb
P2093
P2860
P3181
P356
P1476
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome
@en
P2093
Degrauw TJ
Salomons GS
Verhoeven NM
van Dooren SJ
P2860
P304
P3181
P356
10.1086/320595
P407
P50
P577
2001-04-20T00:00:00Z