(Q43128486)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20232099%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

A second MNGIE patient without typical mitochondrial skeletal muscle involvement (English)

1 reference

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19 January 2020

5

1 reference

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19 January 2020

Anna Rubegni

10

1 reference

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19 January 2020

Antonio Federico

12

1 reference

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19 January 2020

1

Elena Cardaioli

1 reference

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19 January 2020

3

Edoardo Malfatti

1 reference

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19 January 2020

Alessandro Malandrini

8

object named as

Alessandro Malandrini

1 reference

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19 January 2020

6

Carmen Gaudiano

1 reference

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19 January 2020

4

Carla Battisti

1 reference

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19 January 2020

11

Maria Teresa Dotti

1 reference

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19 January 2020

author name string

Paola Da Pozzo

2

1 reference

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19 January 2020

Marco Macucci

7

1 reference

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19 January 2020

Maria Margollicci

9

1 reference

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19 January 2020

publication date

16 March 2010

1 reference

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19 January 2020

published in

Neurological Sciences

1 reference

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19 January 2020

volume

31

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19 January 2020

issue

4

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19 January 2020

page(s)

491-494

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

19 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10072-010-0225-5

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

21 January 2018

1 reference

12 December 2020

[MNGIE syndrome in 2 siblings]

1 reference

12 December 2020

Metabolic myopathies: update 2009.

1 reference

12 December 2020

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (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

Purification and tissue distribution of human thymidine phosphorylase; high expression in lymphocytes, reticulocytes and tumors

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features

1 reference

12 December 2020

10.1007/S10072-010-0225-5

Identifiers

DOI

1 reference

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19 January 2020

1 reference