Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine

Item
http://www.wikidata.org/entity/Q24534466
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case reportCharacterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningIncidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study.Ethylene glycol monomethyl ether-induced toxicity is mediated through the inhibition of flavoprotein dehydrogenase enzyme familyGenetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Enzymology of the branched-chain amino acid oxidation disorders: the valine pathwayIsovaleric acidemia: new aspects of genetic and phenotypic heterogeneityPrevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in WisconsinLong-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemiaEnzymes involved in branched-chain amino acid metabolism in humans.The fungus Ustilago maydis and humans share disease-related proteins that are not found in Saccharomyces cerevisiae.A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.A single acyl-CoA dehydrogenase is required for catabolism of isoleucine, valine and short-chain fatty acids in Aspergillus nidulans.alpha-methylbutyryl-CoA + FAD => tiglyl-CoA + FADH2Molecular characterization of breast cancer cell response to metabolic drugs.
P2860

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine

Item
http://www.wikidata.org/entity/Q24534466
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@ast
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@en
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@en-gb
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@nl
type
label
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@ast
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@en
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@en-gb
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@nl
prefLabel
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@ast
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@en
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@en-gb
Isolated 2-methylbutyrylglycin ...... nases in isoleucine and valine
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Isolated 2-methylbutyrylglycin ...... oleucine and valine metabolism
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932