Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit. [PDF]
Int J Mol Sci, 2023 Lancaster MS, Graham BH.
europepmc +2 more sources
Stem cell-derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy. [PDF]
CNS Neurosci Ther, 2021 Liu K, Zhou Z, Pan M, Zhang L.
europepmc +2 more sources
Mitochondrial encephalomyopathies [PDF]
Journal of Neuropathology & Experimental Neurology, 2003 Mitochondrial encephalomyopathies are diseases caused by defective oxidative phosphorylation (OXPHOS), and affect the nervous system and/or skeletal muscle. They have emerged as a major entity among the neurometabolic diseases of childhood with an incidence of 1 in 11,000 children, and also have a high prevalence in adults.
Anders, Oldfors, Már, Tulinius
openaire +3 more sources
Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy. [PDF]
, 2020 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disorder caused by mutations in TYMP, leading to a deficiency in thymidine phosphorylase and a subsequent systemic accumulation of thymidine and 2'-deoxyuridine.
Antunes, NJ +8 more
core +1 more source
BioMedica, 2021 Background and Objective: Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia +5 more
doaj +1 more source
Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core +1 more source
Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment [PDF]
, 2020 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase.
Bax, BE
core +1 more source
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]
, 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE +9 more
core +3 more sources
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) [PDF]
Acta Medica Iranica, 2006 Mitochondrial neurogastrointestinal encephalo-myopathy (MNGIE) is a rare autosomal recessive disease caused by thymidine phosphorylase (TP) gene mutation.
P. Ayatollahi, A. Tarazi S. Nafissi
doaj +2 more sources
BioMedica, 2020 Background and Objective: Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia +5 more
doaj +1 more source