(Q37928424)

25 August 2017

1 reference

title

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death (English)

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25 August 2017

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W Sperl

1

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25 August 2017

W Ruitenbeek

2

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25 August 2017

C M Kerkhof

3

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25 August 2017

R C Sengers

4

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25 August 2017

J M Trijbels

5

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25 August 2017

J P Guggenbichler

6

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25 August 2017

A J Janssen

7

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25 August 2017

J A Bakkeren

8

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25 August 2017

publication date

1 April 1990

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European Journal of Pediatrics

25 August 2017

published in

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25 August 2017

volume

149

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25 August 2017

issue

7

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25 August 2017

page(s)

487-492

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https://scigraph.springernature.com/pub.10.1007/bf01959401

25 August 2017

exact match

0 references

cites work

A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01959401

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01959401

The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA

21 January 2018

1 reference

12 December 2020

Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).

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12 December 2020

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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12 December 2020

A microspectrophotometric method for the determination of cytochrome oxidase.

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12 December 2020

Mammalian alpha-keto acid dehydrogenase complexes. I. Isolation, purification, and properties of pyruvate dehydrogenase complex of pig heart muscle

1 reference

12 December 2020

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

1 reference

12 December 2020

Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification

1 reference

12 December 2020

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

12 December 2020

Disorders of the pyruvate dehydrogenase complex

1 reference

12 December 2020

Non-enzymic conversion of pyruvate in aqueous solution to 2,4-dihydroxy-2-methylglutaric acid

1 reference

12 December 2020

Low immunogenicity of the common lipoamide dehydrogenase subunit (E3) of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multienzyme complexes

1 reference

12 December 2020

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

12 December 2020

Systemic deficiency of the first component of the pyruvate dehydrogenase complex.

1 reference

12 December 2020

A sensitive spectrophotometric assay for pyruvate dehydrogenase and oxoglutarate dehydrogenase complexes

1 reference

12 December 2020

Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift

1 reference

12 December 2020

Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.

1 reference

12 December 2020

Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity

1 reference

12 December 2020

Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency.

1 reference

12 December 2020

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

1 reference

12 December 2020

The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

1 reference

12 December 2020

Immunochemical evidence of pyruvate dehydrogenase (E1) deficiency

1 reference

12 December 2020

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure.

1 reference

12 December 2020

Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex

1 reference

12 December 2020

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency

1 reference

12 December 2020

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

1 reference

12 December 2020

Inborn errors of pyruvate metabolism

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

1 reference

12 December 2020

Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.

1 reference

12 December 2020

Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01959401

1 reference

25 August 2017

1 reference