| Literature DB >> 20931438 |
Yaşar Çolak1, İlyas Tuncer, Erkan Çağlar, Dilek Barutçu, Celal Ulaşoğlu, Şafak Kiziltaş.
Abstract
Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystem disorder caused by thymidine phosphorylase deficiency. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, severe gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, and mitochondrial abnormalities. Herein, we describe a patient with mitochondrial neurogastrointestinal encephalomyopathy who presented intestinal pseudoobstruction.Entities:
Mesh：
Year: 2010 PMID： 20931438 DOI： 10.4318/tjg.2010.0106
Source DB: PubMed Journal: Turk J Gastroenterol ISSN： 1300-4948 Impact factor: 1.852