Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network-Reference-Cited by-同舟云学术

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

Published:2020-09-08 Issue:2 Volume:44 Page:376-387
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Hirano Michio¹,Carelli Valerio²³,De Giorgio Roberto⁴,Pironi Loris⁵,Accarino Anna⁶,Cenacchi Giovanna²,D'Alessandro Roberto³,Filosto Massimiliano⁷,Martí Ramon⁸,Nonino Francesco³,Pinna Antonio Daniele⁹,Baldin Elisa³,Bax Bridget Elizabeth¹⁰,Bolletta Alessio¹¹,Bolletta Riccardo¹¹,Boschetti Elisa¹²,Cescon Matteo¹³,D'Angelo Roberto¹⁴,Dotti Maria Teresa¹⁵,Giordano Carla¹⁶,Gramegna Laura Ludovica²³,Levene Michelle¹⁰,Lodi Raffaele²³,Mandel Hanna¹⁷,Morelli Maria Cristina¹⁸,Musumeci Olimpia¹⁹,Pugliese Alessia¹⁹,Scarpelli Mauro²⁰,Siniscalchi Antonio²¹,Spinazzola Antonella²²,Tal Galit²³,Torres‐Torronteras Javier⁸,Vignatelli Luca³,Zaidman Irina²⁴,Zoller Heinz²⁵,Rinaldi Rita¹⁴,Zeviani Massimo²⁶

Affiliation:

1. Department of Neurology Columbia University Irving Medical Center New York New York USA

2. Department of Biomedical and Neuromotor Sciences University of Bologna Italy

3. IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy

4. Department of Morphology Surgery and Experimental Medicine, University of Ferrara Ferrara Italy

5. Clinical Nutrition and Metabolism Unit and Center for Chronic Intestinal Failure, Department of Digestive System St. Orsola‐Malpighi Hospital, University of Bologna Bologna Italy

6. Digestive System Research Unit, University Hospital Vall d'Hebron / Centro de Investigación Biomédica en Red de Enfermeda des Hepáticas y Digestivas (CIBEREHD); Departament de Medicina Universitat Autònoma de Barcelona Barcelona Spain

7. Center for Neuromuscular Diseases, Unit of Neurology, Azienda Socio Sanitaria Territoriale degli Spedali Civili and University of Brescia Brescia Italy

8. Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Autonomous University of Barcelona Barcelona Spain

9. University of Bologna, St. Orsola‐Malpighi Hospital Bologna Italy

10. Institute of Molecular and Clinical Sciences, St George's University of London London UK

11. Mitochondrial Patients, Mitocon ONLUS Rome Italy

12. Department of Medical and Surgical Sciences University of Bologna Bologna Italy

13. General Surgery and Transplant Unit, Department of Medical and Surgical Sciences University of Bologna Bologna Italy

14. IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Interaziendale Metropolitana (NeuroMet), ‐ Neurologia AOU S.Orsola‐Malpighi Bologna Italy

15. Neurological and Metabolic Diseases Clinic, Siena Hospital, Department of Medicine, Surgery and Neuroscience University of Siena Siena Italy

16. Department of Radiological, Oncological and Pathological Sciences Sapienza, University of Rome Umberto I Policlinic, Rome Italy

17. Institute of Human Genetics and Inherited Metabolic Disorders Galilee Medical Center Nahariya Israel

18. Department for Care of Organ Failures and Transplants Internal Medicine for the Treatment of Severe Organ Failures, St. Orsola‐Malpighi Hospital Bologna Italy

19. Department of Clinical and Experimental Medicine University of Messina Messina Italy

20. Neurology Unit, Department of Neuroscience Azienda Ospedaliero Universitaria Integrata Verona Verona Italy

21. Anaesthesiology Intensive Care and Transplantation Unit St. Orsola‐Malpighi Hospital Bologna Italy

22. Department of Clinical Movement Neurosciences Royal Free Campus, University College of London, Queen Square Institute of Neurology London UK

23. Metabolic Unit Ruth Rappaport Children's Hospital, Rambam Health Care Campus Haifa Israel

24. Department of Bone Marrow Transplantation Hadassah University Medical Center Jerusalem Israel

25. Department of Internal Medicine I Medical University of Innsbruck Innsbruck Austria

26. Department of Neurosciences Veneto Institute of Molecular Medicine, University of Padova Padova Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12300

Reference58 articles.

1. Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

2. ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy

3. MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis

4. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

5. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Cited by 48 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mitochondrial neurogastrointestinal encephalomyopathy;Radiopaedia.org;2024-01-26

2. Erythrocyte-based Drug Delivery: How Far from Clinical Application?;Current Drug Delivery;2024-01

3. Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?;International Journal of Molecular Sciences;2023-11-25

4. Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments;Neurogastroenterology & Motility;2023-11-22

5. Current status and future directions of liver transplantation for metabolic liver disease in children;Pediatric Transplantation;2023-10-19