Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
about
Sexual differentiation of the zebra finch song system: potential roles for sex chromosome genesBiotinUrinary excretion of 3-hydroxyisovaleric acid and 3-hydroxyisovaleryl carnitine increases in response to a leucine challenge in marginally biotin-deficient humansConsanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCDSusceptibility to heat stress and aberrant gene expression patterns in holocarboxylase synthetase-deficient Drosophila melanogaster are caused by decreased biotinylation of histones, not of carboxylases.Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria.
P2860
Q21263006-E62B55D9-5941-4BAE-B412-1DAD567EB262Q28026625-EDE258A4-906C-45D4-A0AA-30F87A80AB54Q28248038-6999098E-A620-4D84-B499-22466B00CC83Q29109856-A8A3908D-4647-4DAA-ADCE-30BFC3D684AEQ35698874-C1ECACAE-B4DE-4067-9C21-93A6D737DC5EQ35752479-E39F1FE4-F72A-4F25-9363-1FC9F34A2E0DQ36389786-B8EB7A7F-8262-4F3F-A8DD-A7A3585F46D4Q40148684-FC25DEFE-6E7F-4D88-92F6-16D5F6972A06
P2860
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年學術文章
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name
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@ast
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@en
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@en-gb
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@nl
type
label
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@ast
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@en
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@en-gb
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@nl
prefLabel
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@ast
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@en
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@en-gb
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@nl
P2093
P2860
P356
P1476
Isolated 3-methylcrotonyl-CoA ...... sponsiveness to biotin therapy
@en
P2093
Boris Gebhardt
Brian Fowler
David Valle
Dolores Friebel
E Regula Baumgartner
Georg F Hoffmann
M Fernanda Dantas
Shlomo Almashanu
Terttu Suormala
P2860
P304
P356
10.1086/425181
P407
P577
2004-09-09T00:00:00Z