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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mitochondrial-neurogastrointestinal-encephalomyopathy-an-autosomal-recessive/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Ichizo Nishino,Antonella Spinazzola,Alexandros Papadimitriou,Simon Hammans,Israel Steiner,Cecil D. Hahn,Anne M. Connolly,Alain Verloès,Jo�o Guimar�es,Ivan Maillard,H Hamano,Maria Alice Donati,Carol E. Semrad,James A. Russell,Antoni L. Andreu,Giorgos M. Hadjigeorgiou,Tuan Vu,S. Tadesse,Torbjoern G. Nygaard,Ikuya Nonaka,Ikuo Hirano,E. Bonilla,Lewis P. Rowland,S. DiMauro,Michio Hirano |
| Citations | 343 |
| DOI | 10.1002/1531-8249(200006)47:6<792::aid-ana12>3.0.co;2-y |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2139144665 |
| PMID | 10852545 |
| Type | article |
| Year | 2000 |

## Paper authors

- [Carol E. Semrad](https://scholariq.org/researchers/carol-e-semrad/)

## Paper journal

- [Annals of Neurology](https://scholariq.org/journals/annals-of-neurology/)

## Paper primary topic

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

## Paper topics

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Biochemical and Molecular Research](https://scholariq.org/topics/biochemical-and-molecular-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.