J
J Guimarães
Publications - 1
Citations - 314
J Guimarães is an academic researcher. The author has contributed to research in topics: Compound heterozygosity & Thymidine phosphorylase. The author has an hindex of 1, co-authored 1 publications receiving 298 citations.
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Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
Ichizo Nishino,Antonella Spinazzola,A. Papadimitriou,S Hammans,I Steiner,Cecil D. Hahn,Anne M. Connolly,Alain Verloes,J Guimarães,Ivan Maillard,H Hamano,M.A. Donati,Carol E. Semrad,James A. Russell,Antonio L. Andreu,Georgios M. Hadjigeorgiou,Tuan Vu,Saba Tadesse,T. G. Nygaard,Ikuya Nonaka,I Hirano,Eduardo Bonilla,Lewis P. Rowland,Salvatore DiMauro,Michio Hirano +24 more
TL;DR: Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; leukoencephalopathy; and mitochondrial abnormalities.