Recalcitrant vomiting, disturbed eye movements, and leukoencephalopathy. Mitochondrial neurogastrointestinal encephalomyopathy.
Zimmer
Vincent
V
Department of Medicine II, Saarland University Hospital, Homburg, Germany.
Zimmer
Anna
A
Hirano
Michio
M
Lammert
Frank
F
D000328:Adult; D002100:Cachexia / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D005260:Female; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D009886:Ophthalmoplegia / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D011859:Radiography; D013939:Thymidine Phosphorylase / Q000235:genetics; D014839:Vomiting / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology
C543750:TYMP protein, human; D013939:Thymidine Phosphorylase