Results 81 to 90 of about 1,276 (185)

Discovery profiling and bioinformatics analysis of serum microRNA in Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) [PDF]

, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare and fatal inherited metabolic disorder due to mutations in the nuclear TYMP gene and leads to a deficiency in the enzyme thymidine phosphorylase.
Bax, BE, Levene, M, Enguita, FJ
core   +1 more source

AAV8 gene therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in a patient's liver maintained ex situ for 9 days

Clinical Medicine
Introduction: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder caused by mutations in TYMP.1 This results in nucleoside accumulation, mitochondrial damage and progressive gastrointestinal and neurological ...
Teresa Brevini, Lisa Swift, Helen Reynolds, John Ong, Richard Stopforth, Yogeshkumar Malam, Harry Spiers, AnnaPaterson, Adam Duckworth, Arthur Kaser, Vassillis Kosmoliaptsis, Ramon Marti, Jelle van den Ameele, Gwilym Webb, Christopher Watson, Andrew Butler, Fotios Sampaziotis   +16 more
doaj   +1 more source

Encéphalopathie mitochondriale neuro-gastro-intestinale (MNGIE) : quand et comment l’évoquer devant une anorexie mentale atypique ?

, 2016
International audienceThe Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) disease is an extremely underrated syndrome beginning around the age of eighteen years.
Cottencin, Olivier, Danjou, M, Geoffroy, Pierre-Alexis, Seguy, David, Guardia, Dewi   +4 more
core   +1 more source

P11 | DOMINO TRANSPLANTATION IN MNGIE: IS THE LIVER A SUITABLE GRAFT?

European Journal of Histochemistry
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, fatal disorder caused by TYMP mutations leading to toxic nucleoside accumulation and mitochondrial DNA (mtDNA) damage. Liver transplantation, which restores thymidine phosphorylase
doaj   +1 more source

Rare Disease Review: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

, 2017
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder that is caused by nuclear TYMP gene mutations; thymidine phosphorylase is depleted due to these mutations.
Isaacs, Courtney
core  

Mitochondrial neurogastrointestinal encephalopathy: a case report

The Egyptian Journal of Radiology and Nuclear Medicine
Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disease associated with alterations in mitochondrial DNA (mtDNA). The typical age of onset of MNGIE is between the first and second decade of life.
Ghazaleh Jamalipour Soufi, Ali Hekmatnia, Farzaneh Hekmatnia, Andrew Parviz Zarei, Farshad Riahi, Shamim Shafieyoon, Sara Azizollahi   +6 more
doaj   +1 more source

The MNGIE Syndrome: DNA Analysis and Histopatholigical Characterization

, 1992
The myo-neuro-gastrointestinal encephalopathy (MNGIE) syndrome is a recently described multisystem mitochondriopathy with prominent ophthalmologic involvement characterized by ptosis and ophthalmoparesis (1).
Anisa B. Threlkeld, MD; Neil R. Miller, MD; Karl Golnik, MD; John Griffin, MD; Ralph Kuncl, MD, PhD; Donald Johns, MD; Orest Hurko, MD
core  

Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive multiorgan disease, frequently associated with mutations in the thymidine phosphorylase (TYMP) gene.
최병옥
core   +1 more source

Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease

Archives of Iranian Medicine, 2022
Reza Shervin Badv, Masood Ghahvechi Akbari, Morteza Heidari, Moeinadin Safavi   +3 more
openaire   +2 more sources

Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

, 2011
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disease characterized by severe gastro-intestinal (GI) dysmotility caused by mutations in the thymidine phosphorylase gene. Thymidine phosphorylase (TP) is involved in the control of
GIORDANO, Carla, D'AMATI, Giulia
core   +1 more source