Complex I deficiency in association with structural abnormalities of the diaphragm and brain (Q48510857)

12 February 2018

http://europepmc.org/abstract/MED/9501272

title

Complex I deficiency in association with structural abnormalities of the diaphragm and brain (English)

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12 February 2018

http://europepmc.org/abstract/MED/9501272

author

Kathryn North

2

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12 February 2018

http://europepmc.org/abstract/MED/9501272

John Christodoulou

4

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12 February 2018

http://europepmc.org/abstract/MED/9501272

author name string

C Ellaway

1

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12 February 2018

http://europepmc.org/abstract/MED/9501272

S Arbuckle

3

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12 February 2018

http://europepmc.org/abstract/MED/9501272

publication date

1 February 1998

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12 February 2018

http://europepmc.org/abstract/MED/9501272

published in

Journal of Inherited Metabolic Disease

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12 February 2018

http://europepmc.org/abstract/MED/9501272

volume

21

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12 February 2018

http://europepmc.org/abstract/MED/9501272

issue

1

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12 February 2018

http://europepmc.org/abstract/MED/9501272

page(s)

72-73

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12 February 2018

http://europepmc.org/abstract/MED/9501272

cites work

Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/9501272

12 December 2020

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9501272

12 December 2020

Oxidative phosphorylation defect associated with primary adrenal insufficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9501272

12 December 2020

Craniofacial anomalies and malformations in respiratory chain deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9501272

12 December 2020

Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women

1 reference

https://pubmed.ncbi.nlm.nih.gov/9501272

12 December 2020

Identifiers

DOI

10.1023/A:1005367515701

1 reference

12 February 2018

http://europepmc.org/abstract/MED/9501272

Dimensions Publication ID

1034959093

0 references

1 reference

12 February 2018