A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy (Q84343306)

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4 February 2020

title

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy (English)

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mitochondrial neurogastrointestinal encephalomyopathy

4 February 2020

main subject

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4

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4 February 2020

Antonio Federico

9

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4 February 2020

1

Elena Cardaioli

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4 February 2020

10

Maria Teresa Dotti

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Maria Alessandra Carluccio

4 February 2020

3

object named as

Maria Alessandra Carluccio

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4 February 2020

author name string

Francesco Sicurelli

2

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4 February 2020

Paola Da Pozzo

5

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4 February 2020

Mauro Mondelli

6

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4 February 2020

Maria Antonietta Margollicci

7

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4 February 2020

Vanna Micheli

8

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publication date

12 June 2011

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4 February 2020

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4 February 2020

volume

259

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issue

1

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page(s)

172-174

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

4 February 2020

cites work

1 reference

12 December 2020

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

12 December 2020

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

1 reference

12 December 2020

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

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