(Q40904115)

24 September 2017

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title

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

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24 September 2017

O Søvik

1

1 reference

PubMed ID

8487503

24 September 2017

language of work or name

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1 January 1993

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Journal of Inherited Metabolic Disease

24 September 2017

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24 September 2017

16

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24 September 2017

1

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24 September 2017

46-54

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https://scigraph.springernature.com/pub.10.1007/bf00711314

24 September 2017

0 references

cites work

3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.

1 reference

12 December 2020

Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

[Purification and crystallization of thiolase; study of its action mechanism]

1 reference

12 December 2020

The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in β-ketothiolase deficiency

1 reference

12 December 2020

Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria

1 reference

12 December 2020

Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome"

1 reference

12 December 2020

Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues

1 reference

12 December 2020

Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report.

1 reference

12 December 2020

A "new" disorder of isoleucine catabolism

1 reference

12 December 2020

Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase

1 reference

12 December 2020

Two cases of beta-ketothiolase deficiency: a comparison

1 reference

12 December 2020

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency

1 reference

12 December 2020

Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency

1 reference

12 December 2020

Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency

1 reference

12 December 2020

The acetoacetyl-coenzyme A thiolases of rat brain and their relative activities during postnatal development

1 reference

12 December 2020

Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia

1 reference

12 December 2020

A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria

1 reference

12 December 2020

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency

1 reference

12 December 2020

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis

1 reference

12 December 2020

Biosynthesis of enzymes of rat-liver mitochondrial beta-oxidation

1 reference

12 December 2020

Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency

1 reference

12 December 2020

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes

1 reference

12 December 2020

beta-Ketothiolase deficiency with favourable evolution

1 reference

12 December 2020

The oxoacyl-coenzyme A thiolases of animal tissues

1 reference

12 December 2020

A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency

1 reference

12 December 2020

3-Ketothiolase deficiency

1 reference

12 December 2020

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts

1 reference

12 December 2020

A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.

1 reference

12 December 2020

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

1 reference

12 December 2020

A case of beta-ketothiolase deficiency

1 reference

12 December 2020

Congestive cardiomyopathy associated with β-ketothiolase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711314

1 reference

PubMed ID

8487503

Dimensions Publication ID

24 September 2017

0 references

1 reference

PubMed ID

8487503