MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
about
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature reviewGenetic disorders of thyroid metabolism and brain developmentAltered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardationFurther Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 MutationInherited defects of thyroid hormone-cell-membrane transport: review of recent findings.Role of monocarboxylate transporters in drug delivery to the brain.Zebrafish as a model for monocarboxyl transporter 8-deficiency.Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.BDE-99 impairs differentiation of human and mouse NPCs into the oligodendroglial lineage by species-specific modes of actionThyroid Hormone Signaling in Oligodendrocytes: from Extracellular Transport to Intracellular Signal.Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features.Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.
P2860
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P2860
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@ast
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@en
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@nl
type
label
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@ast
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@en
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@nl
prefLabel
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@ast
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@en
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
@nl
P2093
P2860
P50
P356
P1476
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features
@en
P2093
Antonia Di Genni
Christin D Collins
Fabio Triulzi
Janice E Brunstrom-Hernandez
Johanna L Schmidt
P2860
P304
P356
10.1177/0883073812450944
P50
P577
2012-07-17T00:00:00Z