Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging.
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The creatine kinase system and pleiotropic effects of creatineCyclocreatine treatment improves cognition in mice with creatine transporter deficiencyDiagnostic methods and recommendations for the cerebral creatine deficiency syndromes.The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Engaging neuroscience to advance translational research in brain barrier biology.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 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.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.Effects of amide creatine derivatives in brain hippocampal slices, and their possible usefulness for curing creatine transporter deficiency.Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.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.
P2860
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P2860
Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Incidence of brain creatine tr ...... in magnetic resonance imaging.
@en
Incidence of brain creatine tr ...... in magnetic resonance imaging.
@nl
type
label
Incidence of brain creatine tr ...... in magnetic resonance imaging.
@en
Incidence of brain creatine tr ...... in magnetic resonance imaging.
@nl
prefLabel
Incidence of brain creatine tr ...... in magnetic resonance imaging.
@en
Incidence of brain creatine tr ...... in magnetic resonance imaging.
@nl
P2093
P1476
Incidence of brain creatine tr ...... in magnetic resonance imaging.
@en
P2093
Amy Newmeyer
Joseph F Clark
Mark Schapiro
Ton J Degrauw
P304
P356
10.1097/00004703-200508000-00003
P50
P577
2005-08-01T00:00:00Z