(Q48201010)

English

Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation

scientific article published in May 2007

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

cognitive dysfunction

1 reference

based on heuristic

inferred from title

mitochondrial neurogastrointestinal encephalomyopathy

1 reference

based on heuristic

inferred from title

6

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

author name string

F J Carod-Artal

1

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

M D Herrero

2

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

M C Lara

3

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

E López-Gallardo

4

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

E Ruiz-Pesini

5

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

J Montoya

7

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

publication date

1 May 2007

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

European Journal of Neurology

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

14

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

5

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

581-585

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

Altered thymidine metabolism due to defects of thymidine phosphorylase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01720.X

21 January 2018

Identifiers

10.1111/J.1468-1331.2007.01720.X

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17437622

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