The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
about
Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiencyCyclocreatine treatment improves cognition in mice with creatine transporter deficiencyDiagnostic methods and recommendations for the cerebral creatine deficiency syndromes.Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.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.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
P2860
Q30477551-20150EAB-F309-418D-ABF5-C44A9ECD862BQ30523794-26D859AE-9D1D-4F06-AFCD-69EE35077B1FQ30880728-F08E449C-6EA4-4C10-9D26-15FA044600DBQ37002978-1D90227D-DAA4-4AF6-9867-81F86AE947F1Q38208767-ACA27371-AC20-4B97-BA25-9649FBC16407Q39552148-F2873C53-8441-4DCC-864F-96023F10EDF2Q41923519-36FC0C2F-C1D5-4310-943F-996180FB91A7Q47836956-2994D897-DC06-4B70-B180-3CD49DE2AE73Q50711007-FDBB141A-CFEB-41D2-9D4C-E93A5D36BFC9Q54349424-B76668F2-ACBA-4114-BD40-9DDF31DF43A9
P2860
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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name
The screening of SLC6A8 defici ...... h X-linked mental retardation.
@en
The screening of SLC6A8 defici ...... h X-linked mental retardation.
@nl
type
label
The screening of SLC6A8 defici ...... h X-linked mental retardation.
@en
The screening of SLC6A8 defici ...... h X-linked mental retardation.
@nl
prefLabel
The screening of SLC6A8 defici ...... h X-linked mental retardation.
@en
The screening of SLC6A8 defici ...... h X-linked mental retardation.
@nl
P2093
P2860
P1476
The screening of SLC6A8 defici ...... h X-linked mental retardation.
@en
P2093
G S Salomons
M Männamaa
P2860
P2888
P356
10.1007/S10545-008-1063-Y
P478
33 Suppl 3
P577
2010-12-01T00:00:00Z