Results 51 to 60 of about 1,586 (183)

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

Progress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian, Vajiheh Aghamollaii, Mohammadreza Mousavipour, Setareh Rassa   +3 more
wiley   +1 more source

CARRIER ERYTHROCYTE ENTRAPPED THYMIDINE PHOSPHORYLASE THERAPY FOR MNGIE [PDF]

Neurology, 2008
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive condition caused by mutations in the nuclear gene ECGF1 coding for thymidine phosphorylase (TP).1,2 Clinical features include gastrointestinal dysmotility, peripheral sensorimotor polyneuropathy, progressive external ophthalmoplegia, and hepatopathy.
Moran, N. F., Bain, M. D., Muqit, M. M. K., Bax, B. E.   +3 more
openaire   +4 more sources

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease

Neurogastroenterology &Motility, Volume 38, Issue 4, April 2026.
As an orphan disease, where treatment is not curative and diagnosis is often slow, VSCM represents a serious health and social problem requiring research efforts in several directions. ABSTRACT Background Visceral myopathy (VSCM) is an ultra‐rare life‐threatening condition characterized by severe impairment of gastrointestinal (GI), genitourinary, and ...
Pascal de Santa Barbara, Isabella Ceccherini, Robert O. Heuckeroth, Carlo Di Lorenzo, Maria M. Alves, Arthur Beyder, Osvaldo Borrelli, Ludovica Cacopardo, Rachel Ceron, Jihong Chen, Federica Chiappori, Antonio Contessa, Roberto De Giorgio, Antonella Diamanti, Maria Grazia Faticato, Sandrine Faure, Sohaib K. Hashmi, Jan D. Huizinga, Raj P. Kapur, Cecile Lambe, Laurence Lancon, Ryan McManigal, Hayat Mousa, Alessandro Palmitelli, Victor Perreaux, Alessio Pini Prato, Michela Pitto, Elisa Proietti, John Rendu, Anna Rybak, Kenton M. Sanders, Sabah Sardar, Vincenzo Stanghellini, Renato Tambucci, Nikhil Thapar, Pieter Vanden Berghe, Massimo Vassalli, Qianqian Wang, Michael Wangler, Sharon Wolfson, Almira Zada, Jiliang Zhou, Federica Viti   +42 more
wiley   +1 more source

Core Outcome Set for Liver Transplant in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): the COLT-MNGIE Project- Protocol

, 2023
The purpose of this protocol is to report the methodology for the development of a Core Outcome Set (COS) for the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). A COS represents the minimum that should be measured in a clinical trial for a particular condition. The aim of the COLT-MNGIE project is to develop a COS to be used in research
Rinaldi, Rita, Baldin, Elisa, Cescon, Matteo, Hirano, Michio, Malagelada, Carolina, Martí, Ramon, Massucci, Serena, Mattarozzi, Katia, Morelli, Maria Cristina, Pioli, Silvano, Roubertie, Agathe, Vignatelli, Luca, Nonino, Francesco   +12 more
openaire   +1 more source

POLG1-related mitochondrial disorder with MNGIE- and leigh-like features

Annals of Indian Academy of Neurology, 2019
Josef Finsterer
openalex   +4 more sources

UEG Week 2023 Moderated Posters

, 2023
United European Gastroenterology Journal, Volume 11, Issue S8, Page 201-534, October 2023.
wiley   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source

UEG Week 2023 Poster Presentations

, 2023
United European Gastroenterology Journal, Volume 11, Issue S8, Page 535-1498, October 2023.
wiley   +1 more source

First author gender equality trends in publication of mitochondrial neuro gastrointestinal encephalopathy-MNGIE disease

International Journal of Community Medicine and Public Health
Mitochondrial neuro gastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive genetic condition caused mainly by thymidine phosphorylates (TP) deficiency and TYMP mutations.
S. Bhatnagar, Mansi Singh, G. Sah, Amrutha Nachu   +3 more
semanticscholar   +1 more source