Results 61 to 70 of about 1,276 (185)

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

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity

, 2005
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). All MNGIE patients have had severe loss of TP function and prominent plasma accumulations of the TP substrates ...
Ikuo Hirano, van Kuilenburg, André B. P., Alan Buchman, Michio Hirano, Albert H. van Gennip, van Gennip, Albert H., Jan J. G. M. Verschuuren, Ben J. H. M. Poorthuis, Tadesse, Saba, Poorthuis, Ben J. H. M., Martí, Ramon, André B. P. van Kuilenburg, Verschuuren, Jan J. G. M., Buchman, Alan, Hirano, Ikuo, Saba Tadesse, Ramon Martí, Hirano, Michio   +17 more
core   +1 more source

Gastrointestinal Pseudo‐Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants

European Journal of Neurology, Volume 33, Issue 6, June 2026.
Josef Finsterer
wiley   +1 more source

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

Case Reports in Gastrointestinal Medicine, 2022
We present a unique case of a 24-year-old male who was admitted for intractable nausea, emesis, weight loss, and abdominal discomfort. The patient underwent an extensive workup and was diagnosed with mitochondrial neurogastrointestinal encephalopathy ...
Neethi Dasu, Brian Blair, C. Jonathan Foster, Colin Smith   +3 more
doaj   +1 more source

Pregnancy in women with mitochondrial disease—A literature review and suggested guidance for preconception and pregnancy care

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 65, Issue 1, Page 30-36, February 2025.
Mitochondrial donation to reduce the risk of primary mitochondrial disease transmission from mother to child is now permitted under Australian law as part of a clinical trial. The energy demands of pregnancy have the potential to worsen mitochondrial disease symptoms and severity in affected women.
Lisa Hui, Pema Hayman, Ali Buckland, Michael C Fahey, David A Mackey, Andrew J Mallett, Daniel R Schweitzer, Clare P Stuart, Wai Yan Yau, John Christodoulou   +9 more
wiley   +1 more source

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study

Clinical Genetics, Volume 106, Issue 6, Page 733-744, December 2024.
The epidemiological study of 1351 Chinese patients with mitochondrial disease reveals that the most prevalent phenotypes are mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes (MELAS), chronic progressive external ophthalmoplegia (CPEO), and Leigh syndrome. Additionally, the study identified several rare phenotypes.
Yang Zhao, Xutong Zhao, Kunqian Ji, Junling Wang, Yuying Zhao, Jie Lin, Qiang Gang, Meng Yu, Yun Yuan, Haishan Jiang, Chong Sun, Fang Fang, Chuanzhu Yan, Zhaoxia Wang   +13 more
wiley   +1 more source

Эпигенетическая болезнь, ассоциированая с синдромом MNGIE и гипергомоцистеинемией

, 2013
Синдром MNGIE (Митохондриальная нейрогастроинтестинальная энцефаломиопатия) (СИНДРОМ МИОНЕЙРОГАСТРОИНТЕСТИ-НАЛЬНОЙ ЭНЦЕФАЛОПАТИИ; MNGIE), (MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; MYONEUROGASTROINTESTINAL ENCEPHALOPATHY ...
Гречанина, Е.Я., Гречанина, Ю.Б., Молодан, Л.В., Здыбская, Е.П.   +3 more
core   +1 more source

Infusion of platelets transiently reduces nucleoside overload in MNGIE

, 2006
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd).
Madoz, P., VALENTINO, MARIA LUCIA, Andreu, A. L., Lara, M. C., Weiss, B., Hirano, M., Massuet, L., Illa, I., Martí, R., Anikster, Y.   +9 more
core   +1 more source

Anesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy

Case Reports in Anesthesiology, 2015
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with deficiency of thymidine phosphorylase (TP).
Vianey Q. Casarez, Acsa M. Zavala, Pascal Owusu-Agyemang, Katherine Hagan   +3 more
doaj   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source