Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway (Q35644084)

9 August 2017

title

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway (English)

1 reference

9 August 2017

1

Ronald J A Wanders

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9 August 2017

2

Marinus Duran

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9 August 2017

Ference J Loupatty

3

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9 August 2017

publication date

23 November 2010

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Journal of Inherited Metabolic Disease

9 August 2017

published in

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9 August 2017

volume

35

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9 August 2017

issue

1

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9 August 2017

page(s)

5-12

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Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

9 August 2017

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12 July 2018

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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 [...]

12 July 2018

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12 July 2018

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2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism

21 January 2018

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Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family

12 July 2018

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Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism

12 July 2018

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Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation

12 July 2018

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Cloning and characterization of a gene (msdA) encoding methylmalonic acid semialdehyde dehydrogenase from Streptomyces coelicolor

12 July 2018

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Purification and partial characterization of 3-hydroxyisobutyryl-coenzyme A hydrolase of rat liver

12 July 2018

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Recent advances in methods of assessing dietary amino acid requirements for adult humans

12 July 2018

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beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.

12 July 2018

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12 July 2018

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Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase

12 July 2018

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12 July 2018

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Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

12 July 2018

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12 July 2018

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Purification and characterization of 3-hydroxyisobutyrate dehydrogenase from rabbit liver

12 July 2018

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Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts

12 July 2018

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Cloning and sequence analysis of a cDNA for 3-hydroxyisobutyrate dehydrogenase. Evidence for its evolutionary relationship to other pyridine nucleotide-dependent dehydrogenases

12 July 2018

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3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism

12 July 2018

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12 July 2018

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CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution

12 July 2018

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Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

12 July 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Structural and mechanistic similarities of 6-phosphogluconate and 3-hydroxyisobutyrate dehydrogenases reveal a new enzyme family, the 3-hydroxyacid dehydrogenases

21 January 2018

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Coenzyme A thiol esters of isobutyric, methacrylic, and beta-hydroxyisobutyric acids as intermediates in the enzymatic degradation of valine

23 October 2018

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12 December 2020

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

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12 December 2020

Purification and characterization of 2-methyl-branched chain acyl coenzyme A dehydrogenase, an enzyme involved in the isoleucine and valine metabolism, from rat liver mitochondria

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12 December 2020

Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β‐alanine,l‐valine andl‐alloisoleucine metabolism?

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12 December 2020

3-hydroxyisobutyric aciduria with a mild clinical course

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12 December 2020

3-Hydroxyisobutyric aciduria in two brothers

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12 December 2020

Mammalian 3-hydroxyisobutyrate dehydrogenase

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12 December 2020

Bovine liver crotonase (enoyl coenzyme A hydratase). EC 4.2.1.17 L-3-hydroxyacyl-CoA hydrolyase

1 reference

12 December 2020

10.1007/S10545-010-9236-X

Identifiers

DOI

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9 August 2017

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9 August 2017

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