(Q51693814)

English

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

scientific article published in September 2002

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Glutaric aciduria

1 reference

based on heuristic

inferred from title

Masahiko Kimura

2

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

author name string

Purevjav E

1

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Takusa Y

3

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Ohura T

4

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Tsuchiya M

5

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Hara N

6

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Fukao T

7

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Yamaguchi S

8

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

publication date

1 September 2002

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

European Journal of Clinical Investigation

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Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

32

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

9

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

707-712

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Prenatal Diagnosis and Neonatal Monitoring of a Fetus with Glutaric Aciduria Type II Due to Electron Transfer Flavoprotein (β-Subunit) Deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Complementation analysis of fatty acid oxidation disorders

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Phylogenetic characterization of the ubiquitous electron transfer flavoprotein families ETF-alpha and ETF-beta

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Cloning and analysis of the genes for a novel electron-transferring flavoprotein from Megasphaera elsdenii. Expression and characterization of the recombinant protein

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

The functions of the flavin contact residues, alphaArg249 and betaTyr16, in human electron transfer flavoprotein.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Preliminary evidence for the existence of specific functional assemblies between enzymes of the beta-oxidation pathway and the respiratory chain

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2362.2002.01045.X

21 January 2018

Identifiers

10.1046/J.1365-2362.2002.01045.X

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 April 2018

http://europepmc.org/abstract/MED/12486872

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