Literature DB >> 30582904

MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.

Giovanni Corazza1, Cécile Pagan2, Gaëlle Hardy1, Gérard Besson1, Anne Lombès3.   

Abstract

Entities:  

Keywords:  Myo-Neuro-Intestinal Encephalopathy–MNGIE; Natural History; Thymidine Phosphorylase

Mesh：

Substances：

Year:  2018        PMID： 30582904     DOI： 10.1053/j.gastro.2018.12.011

Source DB:  PubMed          Journal:  Gastroenterology        ISSN： 0016-5085            Impact factor:   22.682


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  6 in total

1.  Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision.

Authors:  Armin Farahvash; Charles D Kassardjian; Jonathan A Micieli
Journal:  Case Rep Ophthalmol       Date:  2021-04-12

2.  Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.

Authors:  Jérémie Gautheron; Lara Lima; Baris Akinci; Jamila Zammouri; Martine Auclair; Sema Kalkan Ucar; Samim Ozen; Canan Altay; Bridget E Bax; Ivan Nemazanyy; Véronique Lenoir; Carina Prip-Buus; Cécile Acquaviva-Bourdain; Olivier Lascols; Bruno Fève; Corinne Vigouroux; Esther Noel; Isabelle Jéru
Journal:  BMC Med       Date:  2022-03-28       Impact factor: 8.775

3.  An Unfortunate Cause of Chronic Nausea and Vomiting: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).

Authors:  Neethi Dasu; Brian Blair; C Jonathan Foster; Colin Smith
Journal:  Case Rep Gastrointest Med       Date:  2022-03-30

4.  Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Sema Kalkan Uçar; Havva Yazıcı; Ebru Canda; Esra Er; Fatma Derya Bulut; Cenk Eraslan; Hüseyin Onay; Bridget Elizabeth Bax; Mahmut Çoker
Journal:  JIMD Rep       Date:  2022-07-10

Review 5.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

Authors:  Michio Hirano; Valerio Carelli; Roberto De Giorgio; Loris Pironi; Anna Accarino; Giovanna Cenacchi; Roberto D'Alessandro; Massimiliano Filosto; Ramon Martí; Francesco Nonino; Antonio Daniele Pinna; Elisa Baldin; Bridget Elizabeth Bax; Alessio Bolletta; Riccardo Bolletta; Elisa Boschetti; Matteo Cescon; Roberto D'Angelo; Maria Teresa Dotti; Carla Giordano; Laura Ludovica Gramegna; Michelle Levene; Raffaele Lodi; Hanna Mandel; Maria Cristina Morelli; Olimpia Musumeci; Alessia Pugliese; Mauro Scarpelli; Antonio Siniscalchi; Antonella Spinazzola; Galit Tal; Javier Torres-Torronteras; Luca Vignatelli; Irina Zaidman; Heinz Zoller; Rita Rinaldi; Massimo Zeviani
Journal:  J Inherit Metab Dis       Date:  2020-09-08       Impact factor: 4.750

6.  Pregnancy in MNGIE: a clinical and metabolic honeymoon.

Authors:  Pauline Pappalardo; Jean-François Benoist; Bridget E Bax; Clarisse Carra-Dallière; Cecilia Marelli; Michele Levene; Laetitia Begue; Anne Rolland; Nicolas Flori; François Rivier; Catherine Blanchet; Arnold Munnich; Romain Altwegg; Pierre Meyer; Agathe Roubertie
Journal:  Ann Clin Transl Neurol       Date:  2020-11-07       Impact factor: 5.430
  6 in total

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