(Q48204891)

9 February 2018

title

Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy (English)

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9 February 2018

author name string

B Chabrol

1

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9 February 2018

J Mancini

2

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9 February 2018

C Benelli

3

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9 February 2018

C Gire

4

1 reference

9 February 2018

A Munnich

5

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9 February 2018

publication date

1 January 1994

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9 February 2018

Journal of Child Neurology

published in

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9 February 2018

volume

9

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9 February 2018

issue

1

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9 February 2018

page(s)

52-55

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9 February 2018

Disorders of the pyruvate dehydrogenase complex

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

Peripheral neuropathy in Leigh's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900113

10.1177/088307389400900113

21 January 2018

Identifiers

DOI

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9 February 2018

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9 February 2018