Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.
about
Patterns of brain injury in inborn errors of metabolismUnderstanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineCyclocreatine treatment improves cognition in mice with creatine transporter deficiencyInborn errors of creatine metabolism and epilepsy.A guide to the metabolic pathways and function of metabolites observed in human brain 1H magnetic resonance spectra.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.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 symptomsFifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.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 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.
P2860
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P2860
Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Treatment with L-arginine impr ...... h creatine transporter defect.
@en
Treatment with L-arginine impr ...... h creatine transporter defect.
@nl
type
label
Treatment with L-arginine impr ...... h creatine transporter defect.
@en
Treatment with L-arginine impr ...... h creatine transporter defect.
@nl
prefLabel
Treatment with L-arginine impr ...... h creatine transporter defect.
@en
Treatment with L-arginine impr ...... h creatine transporter defect.
@nl
P2093
P2860
P50
P1433
P1476
Treatment with L-arginine impr ...... h creatine transporter defect.
@en
P2093
Alessandro Comparini
Giovanni Ferretti
M Cristina Bianchi
M Grazia Alessandri
Manuela Casarano
Michela Tosetti
P2860
P304
P356
10.1080/13554790802060821
P577
2008-01-01T00:00:00Z