(Q28283152)

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Severe infantile hypotonia with ethylmalonic aciduria: case report

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Severe infantile hypotonia with ethylmalonic aciduria: case report (English)

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Valeria Tiranti

5

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Massimo Zeviani

series ordinal

4

object named as

Massimo Zeviani

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author name string

Cetin Okuyaz

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1

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Fatih Süheyl Ezgü

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2

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Gürsel Biberoglu

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3

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Esat Yilgör

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6

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language of work or name

English

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publication date

June 2008

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published in

Journal of Child Neurology

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volume

23

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issue

6

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page(s)

703-5

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cites work

Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

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https://api.crossref.org/works/10.1177%2F0883073807313048

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21 January 2018

Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy

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Crossref

reference URL

https://api.crossref.org/works/10.1177%2F0883073807313048

retrieved

21 January 2018

Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.

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https://api.crossref.org/works/10.1177%2F0883073807313048

retrieved

21 January 2018

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

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reference URL

https://api.crossref.org/works/10.1177%2F0883073807313048

retrieved

21 January 2018

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

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https://api.crossref.org/works/10.1177%2F0883073807313048

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21 January 2018

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

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reference URL

https://api.crossref.org/works/10.1177%2F0883073807313048

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21 January 2018

ETHE1 mutations are specific to ethylmalonic encephalopathy

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reference URL

https://api.crossref.org/works/10.1177%2F0883073807313048

retrieved

21 January 2018

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

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stated in

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reference URL

https://api.crossref.org/works/10.1177%2F0883073807313048

retrieved

21 January 2018

Identifiers

DOI

10.1177/0883073807313048

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PubMed publication ID

18539996

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(Q28283152)

Severe infantile hypotonia with ethylmalonic aciduria: case report

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