Results 131 to 140 of about 1,276 (185)

Mitochondrial DNA depletion syndrome and its cardiac complication. [PDF]

Front Cardiovasc Med
Bao S, Ye J, Zhou J, Zheng C, Xu Y, Chen S.   +5 more
europepmc   +1 more source

Mitochondrial diseases: from molecular mechanisms to therapeutic advances. [PDF]

Signal Transduct Target Ther
Wen H, Deng H, Li B, Chen J, Zhu J, Zhang X, Yoshida S, Zhou Y.   +7 more
europepmc   +1 more source

Exploring the Therapeutic Potential of Peritoneal Dialysis (PD) in the Treatment of Neurological Disorders. [PDF]

Cell Transplant
Cheng M, Ding Y, Kim E, Geng X.
europepmc   +1 more source

Landscape of targets within nucleoside metabolism for the modification of immune responses. [PDF]

Front Oncol
Dunderdale EM, Abt ER.
europepmc   +1 more source

Thymidine phosphorylase in nucleotide metabolism: physiological functions and its implications in tumorigenesis and anti-cancer therapy. [PDF]

Front Immunol
Huang B, Yuan Q, Sun J, Wang C, Yang D.
europepmc   +1 more source

Genetic Diagnosis in Epilepsy: Implications for Clinical Management. [PDF]

Curr Neurol Neurosci Rep
Schatz KS, Lammert DB, Habela CW.
europepmc   +1 more source

Mitochondrial Chronic Progressive External Ophthalmoplegia. [PDF]

Brain Sci
Ali A, Esmaeil A, Behbehani R.
europepmc   +1 more source

A previously diagnosed mitochondrial neurogastrointestinal encephalomyopathy patient presenting with perforated ileal diverticulitis

The Turkish Journal of Gastroenterology, 2005
Fikret AKSOY, Gökhan DEMİRAL, Tayfun BİLGİÇ, İbrahim Gürhan GÜNGÖR, Alp ÖZÇELIK   +4 more
doaj  

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1) [PDF]

Journal of Clinical Medicine, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility,
Alessandro Padovani, Stefano Cotti Piccinelli, Massimiliano Filosto   +2 more
exaly   +6 more sources

Distinctive gastrointestinal motor dysfunction in patients with MNGIE [PDF]

Neurogastroenterology and Motility, 2023
AbstractBackgroundMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase. Clinically it is characterized by severe gastrointestinal dysmotility associated with cachexia and a demyelinating sensorimotor polyneuropathy.
Carolina Malagelada, Arnau Llauradó, Daniel Sanchez-Tejerina   +2 more
exaly   +7 more sources