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High prevalence of SLC6A8 deficiency in X-linked mental retardationSeizures and X-linked intellectual disabilityCreatine 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 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.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.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsCreatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.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.Creatine transporter deficiency leads to increased whole body and cellular metabolism.Electrophysiology and biochemical analysis of cyclocreatine uptake and effect in hippocampal slices.Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.Creatine supplementation to total parenteral nutrition improves creatine status and supports greater liver and kidney protein synthesis in neonatal piglets.Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.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.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Congenital creatine transporter deficiency.
@en
Congenital creatine transporter deficiency.
@nl
type
label
Congenital creatine transporter deficiency.
@en
Congenital creatine transporter deficiency.
@nl
prefLabel
Congenital creatine transporter deficiency.
@en
Congenital creatine transporter deficiency.
@nl
P2093
P356
P1433
P1476
Congenital creatine transporter deficiency.
@en
P2093
P304
P356
10.1055/S-2002-36743
P50
P577
2002-10-01T00:00:00Z