Literature DB >> 17077575

Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Michio Hirano, Ichizo Nishino, Yutaka Nishigaki, Ramon Martí.   

Abstract

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Year:  2006        PMID： 17077575     DOI： 10.2169/internalmedicine.45.6064

Source DB:  PubMed          Journal:  Intern Med        ISSN： 0918-2918            Impact factor:   1.271


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  5 in total

1.  Mitochondrial disorders of the nuclear genome.

Authors:  C Angelini; L Bello; M Spinazzi; C Ferrati
Journal:  Acta Myol       Date:  2009-07

Review 2.  Erythrocyte-mediated delivery of recombinant enzymes.

Authors:  Vincenzo Leuzzi; Luigia Rossi; Claudia Gabucci; Francesca Nardecchia; Mauro Magnani
Journal:  J Inherit Metab Dis       Date:  2016-03-30       Impact factor: 4.982

3.  RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.

Authors:  Jonathan Shintaku; Wolfgang M Pernice; Wafaa Eyaid; Jeevan B Gc; Zuben P Brown; Marti Juanola-Falgarona; Javier Torres-Torronteras; Ewen W Sommerville; Debby Mei Hellebrekers; Emma L Blakely; Alan Donaldson; Ingrid van de Laar; Cheng-Shiun Leu; Ramon Marti; Joachim Frank; Kurenai Tanji; David A Koolen; Richard J Rodenburg; Patrick F Chinnery; H J M Smeets; Gráinne S Gorman; Penelope E Bonnen; Robert W Taylor; Michio Hirano
Journal:  J Clin Invest       Date:  2022-07-01       Impact factor: 19.456

4.  Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases.

Authors:  Yusuke Sekino; Masahiko Inamori; Eiji Yamada; Hidenori Ohkubo; Eiji Sakai; Takuma Higurashi; Hiroshi Iida; Kunihiro Hosono; Hiroki Endo; Takashi Nonaka; Hirokazu Takahashi; Tomoko Koide; Yasunobu Abe; Eiji Gotoh; Shigeru Koyano; Yoshiyuki Kuroiwa; Shin Maeda; Atsushi Nakajima
Journal:  World J Gastroenterol       Date:  2012-09-07       Impact factor: 5.742

5.  Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.

Authors:  Elisa Boschetti; Leonardo Caporali; Roberto D'Angelo; Carolina Malagelada; Anna Accarino; Maria Teresa Dotti; Roberta Costa; Giovanna Cenacchi; Loris Pironi; Rita Rinaldi; Vincenzo Stanghellini; Stefano Ratti; Lucia Manzoli; Valerio Carelli; Roberto De Giorgio
Journal:  Int J Mol Sci       Date:  2022-08-08       Impact factor: 6.208
  5 in total

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