X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
about
Creatine kinase in ischemic and inflammatory disordersCreatine deficiency syndromes and the importance of creatine synthesis in the brainCreatine 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.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.The genetic basis of non-syndromic intellectual disability: a reviewCharacterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD databaseXLMR genes: update 2007.Autism-lessons from the X chromosome.Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathwaysNeuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsGenetic testing in autism: how much is enough?Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.Creatine transporter deficiency in two adult patients with static encephalopathy.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?A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.Creatine transporter deficiency: Novel mutations and functional studies.Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.Creatine transporter deficiency leads to increased whole body and cellular metabolism.Effects of amide creatine derivatives in brain hippocampal slices, and their possible usefulness for curing creatine transporter deficiency.Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.Relax, Cool Down and Scaffold: How to Restore Surface Expression of Folding-Deficient Mutant GPCRs and SLC6 Transporters.Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation.Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.Disorders of creatine transport and metabolism.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.Defining the pathogenicity of creatine deficiency syndrome.A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.Clinical utility of the X-chromosome array.Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
P2860
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P2860
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
X-linked creatine transporter ...... tardation of unknown etiology.
@ast
X-linked creatine transporter ...... tardation of unknown etiology.
@en
X-linked creatine transporter
@nl
type
label
X-linked creatine transporter ...... tardation of unknown etiology.
@ast
X-linked creatine transporter ...... tardation of unknown etiology.
@en
X-linked creatine transporter
@nl
prefLabel
X-linked creatine transporter ...... tardation of unknown etiology.
@ast
X-linked creatine transporter ...... tardation of unknown etiology.
@en
X-linked creatine transporter
@nl
P2093
P1433
P1476
X-linked creatine transporter ...... etardation of unknown etiology
@en
P2093
Amy J Clark
Charles E Schwartz
Cornelis Jakobs
Gajja S Salomons
Roger E Stevenson
Tim C Wood
P2888
P304
P356
10.1007/S00439-006-0162-9
P577
2006-04-26T00:00:00Z
P6179
1023597723