(Q36584759)

15 August 2017

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title

Inborn errors of isoleucine degradation: a review (English)

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15 August 2017

Stanley H Korman

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15 August 2017

publication date

6 September 2006

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Molecular Genetics and Metabolism

15 August 2017

published in

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15 August 2017

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15 August 2017

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15 August 2017

page(s)

289-299

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A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase

15 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Cloning of a cDNA for short/branched chain acyl-Coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Short-chain dehydrogenases/reductases (SDR): the 2002 update

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Neurosteroids and GABAA receptor function.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Type 10 17beta-hydroxysteroid dehydrogenase catalyzing the oxidation of steroid modulators of gamma-aminobutyric acid type A receptors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

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 [...]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Recent developments and new applications of tandem mass spectrometry in newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Problems in the detection of fatty acid oxidation defects: experience of a quality assurance programme for qualitative urinary organic acid analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2‐methylacetoacetyl‐CoA thiolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Genomic variants in exons and introns: identifying the splicing spoilers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Gene-environment interactions in human diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.010

10.1016/J.YMGME.2006.07.010

7 January 2021

Identifiers

DOI

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15 August 2017

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