(Q80745232)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference

Yuka Yotsumoto

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Yuki Hasegawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Seiji Fukuda

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Hironori Kobayashi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Mitsuru Endo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Toshiyuki Fukao

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Seiji Yamaguchi

7

1 reference

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3 January 2020

publication date

4 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

3 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

94

1 reference

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3 January 2020

issue

1

1 reference

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3 January 2020

page(s)

61-67

1 reference

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

3 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

Electron transfer flavoprotein deficiency: functional and molecular aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.002

10.1016/J.YMGME.2008.01.002

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18289905%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference