Update and new concepts in vitamin responsive disorders of folate transport and metabolism.

Update and new concepts in vitamin responsive disorders of folate transport and metabolism.

Item
http://www.wikidata.org/entity/Q34235256
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatmentInsights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsExpression of genes encoding enzymes involved in the one carbon cycle in rat placenta is determined by maternal micronutrients (folic acid, vitamin B12) and omega-3 fatty acids.Altered protein phosphatase 2A methylation and Tau phosphorylation in the young and aged brain of methylenetetrahydrofolate reductase (MTHFR) deficient mice.Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.Identification of prolyl hydroxylation modifications in mammalian cell proteins.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Concerted changes in transcriptional regulation of genes involved in DNA methylation, demethylation, and folate-mediated one-carbon metabolism pathways in the NCI-60 cancer cell line panel in response to cancer drug treatmentGuidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Inborn errors of metabolism causing epilepsy.Inborn errors of metabolism underlying primary immunodeficiencies.Clinical, etiological and therapeutic aspects of cerebral folate deficiency.Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.Arsenic trioxide targets MTHFD1 and SUMO-dependent nuclear de novo thymidylate biosynthesis.Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
P2860

Update and new concepts in vitamin responsive disorders of folate transport and metabolism.

Item
http://www.wikidata.org/entity/Q34235256
description
2011 nî lūn-bûn
@nan
2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Update and new concepts in vit ...... late transport and metabolism.
@ast
Update and new concepts in vit ...... late transport and metabolism.
@en
Update and new concepts in vit ...... late transport and metabolism.
@nl
type
label
Update and new concepts in vit ...... late transport and metabolism.
@ast
Update and new concepts in vit ...... late transport and metabolism.
@en
Update and new concepts in vit ...... late transport and metabolism.
@nl
prefLabel
Update and new concepts in vit ...... late transport and metabolism.
@ast
Update and new concepts in vit ...... late transport and metabolism.
@en
Update and new concepts in vit ...... late transport and metabolism.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P356
P1433
P1476
Update and new concepts in vit ...... late transport and metabolism.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P6179
P698