X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
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High prevalence of SLC6A8 deficiency in X-linked mental retardationCreatine metabolism and psychiatric disorders: Does creatine supplementation have therapeutic value?Creatine deficiency syndromes and the importance of creatine synthesis in the brainCyclocreatine treatment improves cognition in mice with creatine transporter deficiencyA 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.Clinical proton MR spectroscopy in central nervous system disordersX-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.MR spectroscopy in children: protocols and pitfalls in non-tumorous brain pathology.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.Autism-lessons from the X chromosome.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.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsTransport 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.Epilepsy in children--when should we think neurometabolic disease?Energy dysfunction in Huntington's disease: insights from PGC-1α, AMPK, and CKB.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 transporter deficiency: Novel mutations and functional studies.Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.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.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.Defining the pathogenicity of creatine deficiency syndrome.Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.
P2860
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P2860
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@ast
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@en
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@nl
type
label
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@ast
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@en
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@nl
prefLabel
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@ast
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@en
X-linked creatine deficiency s ...... atine transporter gene SLC6A8.
@nl
P2093
P2860
P50
P356
P1433
P1476
X-linked creatine deficiency s ...... eatine transporter gene SLC6A8
@en
P2093
Cornelis Jakobs
Donald H Hunneman
Gajja S Salomons
Margherita Estienne
Marianna Bugiani
Ugo Danesi
P2860
P304
P356
10.1002/ANA.10246
P577
2002-08-01T00:00:00Z