Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
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Biomarkers and Algorithms for the Diagnosis of Vitamin B12 DeficiencyDetermination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesScreening for inherited metabolic diseases using gas chromatography-tandem mass spectrometry (GC-MS/MS) in Sichuan, China.Successful intrauterine treatment of a patient with cobalamin C defect.Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.Molecular picture of cobalamin C/D defects before and after newborn screening era.Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene
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P2860
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Newborn screening for homocyst ...... eview and proposed guidelines.
@ast
Newborn screening for homocyst ...... eview and proposed guidelines.
@en
type
label
Newborn screening for homocyst ...... eview and proposed guidelines.
@ast
Newborn screening for homocyst ...... eview and proposed guidelines.
@en
prefLabel
Newborn screening for homocyst ...... eview and proposed guidelines.
@ast
Newborn screening for homocyst ...... eview and proposed guidelines.
@en
P2093
P2860
P50
P921
P1476
Newborn screening for homocyst ...... eview and proposed guidelines.
@en
P2093
Antonia Ribes
Begoña Merinero
Elisabetta Pasquini
Piero Rinaldo
P2860
P2888
P304
P356
10.1007/S10545-015-9830-Z
P577
2015-03-12T00:00:00Z
2015-11-01T00:00:00Z