Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.
about
Nuclear localization of folate receptor alpha: a new role as a transcription factorClinical features and pharmacotherapy of childhood monoamine neurotransmitter disordersER stress-induced clearance of misfolded GPI-anchored proteins via the secretory pathway.Altered protein phosphatase 2A methylation and Tau phosphorylation in the young and aged brain of methylenetetrahydrofolate reductase (MTHFR) deficient mice.Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma.Folinic acid improves verbal communication in children with autism and language impairment: a randomized double-blind placebo-controlled trial.Determinants of the activities of antifolates delivered into cells by folate-receptor-mediated endocytosis.RNA nanoparticle as a vector for targeted siRNA delivery into glioblastoma mouse model.Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblingsUtility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Enhanced receptor-mediated endocytosis and cytotoxicity of a folic acid-desacetylvinblastine monohydrazide conjugate in a pemetrexed-resistant cell line lacking folate-specific facilitative carriers but with increased folate receptor expressionThe proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.Neonatal hydrocephalus is a result of a block in folate handling and metabolism involving 10-formyltetrahydrofolate dehydrogenase.Vitamin-responsive epileptic encephalopathies in children.Is High Folic Acid Intake a Risk Factor for Autism?-A Review.Folate action in nervous system development and disease.Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.Propositional speech in unselected stroke: The effect of genre and external support.Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
P2860
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P2860
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին 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
Molecular characterization of ...... l folate transport deficiency.
@ast
Molecular characterization of ...... l folate transport deficiency.
@en
Molecular characterization of ...... l folate transport deficiency.
@nl
type
label
Molecular characterization of ...... l folate transport deficiency.
@ast
Molecular characterization of ...... l folate transport deficiency.
@en
Molecular characterization of ...... l folate transport deficiency.
@nl
prefLabel
Molecular characterization of ...... l folate transport deficiency.
@ast
Molecular characterization of ...... l folate transport deficiency.
@en
Molecular characterization of ...... l folate transport deficiency.
@nl
P2093
P2860
P356
P1433
P1476
Molecular characterization of ...... l folate transport deficiency.
@en
P2093
R Steinfeld
T Linnankivi
P2860
P304
P356
10.1093/BRAIN/AWS122
P407
P577
2012-05-13T00:00:00Z