(Q43002695)

12 November 2017

title

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation (English)

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mitochondrial neurogastrointestinal encephalomyopathy

12 November 2017

main subject

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Zeren Bariş

1

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12 November 2017

Tuba Eminoğlu

2

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12 November 2017

Buket Dalgiç

3

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12 November 2017

Leyla Tümer

4

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12 November 2017

Alev Hasanoğlu

5

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12 November 2017

publication date

29 June 2010

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European Journal of Pediatrics

12 November 2017

published in

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12 November 2017

volume

169

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12 November 2017

issue

11

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12 November 2017

page(s)

1375-1378

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https://scigraph.springernature.com/pub.10.1007/s00431-010-1237-0

12 November 2017

exact match

0 references

cites work

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-010-1237-0

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

21 January 2018

1 reference

12 December 2020

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes

1 reference

12 December 2020

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches

1 reference

12 December 2020

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

1 reference

12 December 2020

10.1007/S00431-010-1237-0

Identifiers

DOI

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12 November 2017

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