Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts (Q70599231)

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12 October 2019

title

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

1 reference

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beta-ketothiolase deficiency

12 October 2019

main subject

1 reference

R B Schutgens

1

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12 October 2019

B Middleton

2

1 reference

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12 October 2019

J F vd Blij

3

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12 October 2019

J W Oorthuys

4

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12 October 2019

H A Veder

5

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12 October 2019

T Vulsma

6

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12 October 2019

W H Tegelaers

7

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12 October 2019

publication date

1 September 1982

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European Journal of Pediatrics

12 October 2019

published in

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12 October 2019

volume

139

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12 October 2019

issue

1

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12 October 2019

page(s)

39-42

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Gas chromatography of urinary N-phenylacetylglutamine

12 October 2019

cites work

1 reference

12 December 2020

The oxoacyl-coenzyme A thiolases of animal tissues

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

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

Direct enzymic determination of acetate in tissue extracts in the presence of labile acetate esters

1 reference

12 December 2020

Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia

1 reference

12 December 2020

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

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12 December 2020

The kinetic mechanism of 3-hydroxy-3-methylglutaryl-coenzyme A synthase from baker's yeast

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12 December 2020

A rapid, sensitive, and versatile assay for protein using Coomassie brilliant blue G250.

1 reference

12 December 2020

Congestive cardiomyopathy associated with β-ketothiolase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency

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12 December 2020

Identifiers

DOI

10.1007/BF00442077

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7173255%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

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