(Q28284454)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

0 references

1 reference

ChEBI release 2020-05-28

ChEBI ID

70979

ethylmalonic encephalopathy

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Valeria Tiranti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

author name string

A Drousiotou

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

R Mineri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Th Georgiou

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

G Stylianidou

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

language of work or name

English

0 references

publication date

1 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

volume

79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

page(s)

385-390

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20528888%20AND%20SRC:MED&resulttype=core&format=json

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

4 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01457.X

ETHE1 mutations are specific to ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01457.X

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01457.X

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01457.X

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01457.X

Ethylmalonic encephalopathy: clinical and biochemical observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01457.X

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01457.X

New clinical phenotype of branched-chain acyl-CoA oxidation defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01457.X