A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency
about
Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseStructure and function of biotin-dependent carboxylasesConsanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats.3-methylcrotonyl Coenzyme A (CoA) carboxylase complex is involved in the Xanthomonas citri subsp. citri lifestyle during citrus infection.
P2860
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P2860
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին 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
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@ast
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@en
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@nl
type
label
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@ast
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@en
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@nl
prefLabel
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@ast
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@en
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@nl
P2093
P1476
A single mutation in MCCC1 or ...... nyl-CoA carboxylase deficiency
@en
P2093
Brian Fowler
Céline Bürer
Patricie Burda
Raphael J Morscher
Sarah Catharina Grünert
Terttu Suormala
P304
P356
10.1016/J.YMGME.2011.12.018
P407
P577
2011-12-31T00:00:00Z