Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
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Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transportersCreatine kinase in ischemic and inflammatory disordersArginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATMA 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.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.A novel mouse model of creatine transporter deficiency.Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause GlucosuriaCreatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.Creatine transporter deficiency: Novel mutations and functional studies.Chronic dietary creatine enhances hippocampal-dependent spatial memory, bioenergetics, and levels of plasticity-related proteins associated with NF-κB.SLC6 Transporter Folding Diseases and Pharmacochaperoning.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.
P2860
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P2860
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
@en
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
@nl
type
label
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
@en
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
@nl
prefLabel
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
@en
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
@nl
P2093
P2860
P1476
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
@en
P2093
A C Muntau
A de Brouwer
C E Schwartz
P2860
P304
P356
10.1136/JMEDGENET-2013-101658
P407
P50
P577
2013-05-03T00:00:00Z