Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers (Q48112345)

8 February 2018

title

Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers (English)

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8 February 2018

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Seyrantepe V

1

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8 February 2018

Kale G

2

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8 February 2018

Topaloglu H

3

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8 February 2018

Alikasifoglu A

4

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8 February 2018

Ozgüc M

5

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8 February 2018

publication date

1 September 1999

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8 February 2018

published in

Brain and Development

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8 February 2018

volume

21

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8 February 2018

issue

6

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8 February 2018

page(s)

413-415

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8 February 2018

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

Maternal inheritance and the evaluation of oxidative phosphorylation diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

The association between haematological manifestation and mtDNA deletions in Pearson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

Deletion in Blood Mitochondrial DNA in Kearns-Sayre Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900035-2

7 January 2021

10.1016/S0387-7604(99)00035-2

Identifiers

DOI

1 reference

8 February 2018

1 reference

8 February 2018