Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.
about
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.X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD databaseAutism-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.Creatine transporter deficiency in two adult patients with static encephalopathy.Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Epilepsy spectrum in cerebral creatine transporter deficiency.Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.Relax, Cool Down and Scaffold: How to Restore Surface Expression of Folding-Deficient Mutant GPCRs and SLC6 Transporters.Severe epilepsy in X-linked creatine transporter defect (CRTR-D).Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.Expression and distribution of creatine transporter and creatine kinase (brain isoform) in developing and mature rat cochlear tissues.The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
P2860
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P2860
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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name
Two novel mutations in SLC6A8 ...... two unrelated Dutch families.
@en
Two novel mutations in SLC6A8 ...... two unrelated Dutch families.
@nl
type
label
Two novel mutations in SLC6A8 ...... two unrelated Dutch families.
@en
Two novel mutations in SLC6A8 ...... two unrelated Dutch families.
@nl
prefLabel
Two novel mutations in SLC6A8 ...... two unrelated Dutch families.
@en
Two novel mutations in SLC6A8 ...... two unrelated Dutch families.
@nl
P2093
P2860
P356
P1476
Two novel mutations in SLC6A8 ...... two unrelated Dutch families.
@en
P2093
Catsman-Berrevoets CE
Huijmans JG
Kamphoven JH
Mancini GM
Salomons GS
van der Knaap MS
P2860
P304
P356
10.1002/AJMG.A.30473
P407
P577
2005-01-01T00:00:00Z