Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Item
http://www.wikidata.org/entity/Q38731635
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase (MTHFR) Gene Mutation p.Lys215del in a Southern Italian family.Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.Methylenetetrahydrofolate reductase and psychiatric diseases
P2860

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Item
http://www.wikidata.org/entity/Q38731635
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
@en
type
label
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
@en
prefLabel
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921