3-Ketothiolase deficiency (Q28626104)

1

1 reference

3 February 2017

K. Bartlett

2

1 reference

3 February 2017

A. Romanos

3

1 reference

3 February 2017

J. Gomez Vazquez

4

1 reference

3 February 2017

C. Conde

5

1 reference

3 February 2017

M. Lipson

7

1 reference

3 February 2017

L. Sweetman

8

1 reference

3 February 2017

W. L. Nyhan

European Journal of Pediatrics

9

1 reference

3 February 2017

1 April 1986

1 reference

3 February 2017

1 reference

3 February 2017

144

1 reference

3 February 2017

6

1 reference

3 February 2017

586–589

1 reference

3 February 2017

The oxoacyl-coenzyme A thiolases of animal tissues

1 reference

12 December 2020

A "new" disorder of isoleucine catabolism

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

1 reference

12 December 2020