Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
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Inborn errors of creatine metabolism and epilepsy.A 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.Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD databaseA longitudinal twin study of skewed X chromosome-inactivation.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsMetabolic causes of epileptic encephalopathyX-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?Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.Downregulation of the creatine transporter SLC6A8 by JAK2.Expression and distribution of creatine transporter and creatine kinase (brain isoform) in developing and mature rat cochlear tissues.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
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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name
Clinical features and X-inacti ...... r creatine transporter defect.
@en
Clinical features and X-inacti ...... r creatine transporter defect.
@nl
type
label
Clinical features and X-inacti ...... r creatine transporter defect.
@en
Clinical features and X-inacti ...... r creatine transporter defect.
@nl
prefLabel
Clinical features and X-inacti ...... r creatine transporter defect.
@en
Clinical features and X-inacti ...... r creatine transporter defect.
@nl
P2093
P2860
P1433
P1476
Clinical features and X-inacti ...... r creatine transporter defect.
@en
P2093
G M S Mancini
G S Salomons
I de Koning
J M van de Kamp
M E Steenweg
M S van der Knaap
O T Betsalel
P J W Pouwels
S J M van Dooren
P2860
P304
P356
10.1111/J.1399-0004.2010.01460.X
P577
2011-03-01T00:00:00Z