(Q46395003)

21 December 2017

title

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome (English)

1 reference

21 December 2017

mitochondrial neurogastrointestinal encephalomyopathy

main subject

1 reference

Slama A

1

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Lacroix C

2

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Plante-Bordeneuve V

3

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Lombès A

4

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Conti M

5

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21 December 2017

Reimund JM

6

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Auxenfants E

7

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Crenn P

8

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Laforêt P

9

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Joannard A

10

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Seguy D

11

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Pillant H

12

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Joly P

13

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Haut S

14

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Messing B

15

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Said G

16

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Legrand A

17

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Guiochon-Mantel A

18

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21 December 2017

publication date

24 January 2005

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21 December 2017

Molecular Genetics and Metabolism

published in

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21 December 2017

volume

84

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21 December 2017

issue

4

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21 December 2017

page(s)

326-331

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21 December 2017

Mitochondrial DNA mutations in human disease.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Clinical spectrum and diagnosis of mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

The mitochondrial genome: structure, transcription, translation and replication

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

MNGIE: diarrhea and leukoencephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Phenotypic variability in a Spanish family with MNGIE.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Biochemical and molecular investigations in respiratory chain deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.004

10.1016/J.YMGME.2004.12.004

7 January 2021

Identifiers

DOI

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21 December 2017

1 reference

21 December 2017