Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
about
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.
P2860
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Clinical onset and course, res ...... nd in vitro enzyme study data.
@ast
Clinical onset and course, res ...... nd in vitro enzyme study data.
@en
type
label
Clinical onset and course, res ...... nd in vitro enzyme study data.
@ast
Clinical onset and course, res ...... nd in vitro enzyme study data.
@en
prefLabel
Clinical onset and course, res ...... nd in vitro enzyme study data.
@ast
Clinical onset and course, res ...... nd in vitro enzyme study data.
@en
P2093
P2860
P50
P1476
Clinical onset and course, res ...... and in vitro enzyme study data
@en
P2093
A S Lotz-Havla
J Hennermann
P2860
P2888
P304
P356
10.1007/S10545-014-9803-7
P50
P577
2014-12-20T00:00:00Z