(Q48476402)

11 February 2018

title

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation (English)

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11 February 2018

ethylmalonic encephalopathy

main subject

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7

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author name string

Maja Di Rocco

1

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11 February 2018

Ubaldo Caruso

2

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11 February 2018

Egill Briem

3

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11 February 2018

Andrea Rossi

4

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11 February 2018

Anna E M Allegri

5

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11 February 2018

Davide Buzzi

6

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11 February 2018

publication date

7 July 2006

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11 February 2018

Molecular Genetics and Metabolism

published in

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11 February 2018

volume

89

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11 February 2018

issue

4

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11 February 2018

page(s)

395-397

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11 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.010

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.010

Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.010

Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.010

ETHE1 mutations are specific to ethylmalonic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.010

Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.010

The role of methionine in ethylmalonic encephalopathy with petechiae

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.010

Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.010

10.1016/J.YMGME.2006.05.010

7 January 2021

Identifiers

DOI

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11 February 2018

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11 February 2018