Results 31 to 40 of about 1,586 (183)

Nutritional management in MNGIE disease: A case report

Clinical Science of Nutrition
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder characterized by thymidine phosphorylase deficiency. The progressive course of MNGIE increases the importance of early diagnosis and supportive
Tuğçe Kartal, Sema Uzunoğlu, İrem Kaplan, Fatma Derya Bulut, Deniz Kör, Neslihan Önenli Mungan   +5 more
openalex   +3 more sources

Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) [PDF]

Case Reports in Gastroenterology, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive and fatal multisystem metabolic disorder. It presents with wide-ranging gastrointestinal and neurologic symptoms.
Antonios Tawk, Mohammed Hussein Kamarreddine, Mona Dagher, Ghadi Abboud, Mohamad Chams, Fatmeh Ghandour‐Hajj, Mounir Khoury, Said Farhat   +7 more
openalex   +2 more sources

Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides

EBioMedicine, 2020
Background Preclinical studies have shown that gene therapy is a feasible approach to treat mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
FERRÁN Vila-Julià, Yolanda Camara, MIGUEL Molina-Berenguer   +2 more
exaly   +2 more sources

Therapies for Mitochondrial Disease: Past, Present, and Future. [PDF]

J Inherit Metab Dis
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Ball M, van Bergen NJ, Compton AG, Thorburn DR, Rahman S, Christodoulou J.   +5 more
europepmc   +2 more sources

A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome

Neuromuscular Diseases, 2022
Mitochondrial neurogastrointestinal encephalomyopathy is an extremely rare (1–9:1 000 000, Orphanet, 2021) multisystem genetic disease caused by mutations in the TYMP gene encoding the enzyme thymidine phosphorylase.The article presents the data of a ...
С. Н. Бардаков, Igor S. Limaev, A.M. Emelin, Valentin Nikitins, E.V. Presnyakov, С. В. Курбатов, Polina Tsygankova, В. А. Царгуш, И. А. Чекмарева, E. V. Kolmakova, Н. В. Бакулина, R. V Deev   +11 more
openalex   +3 more sources

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [PDF]

FEBS Letters, 2007
Maria Lucia Valentino, Ramon Marti, Luis C Lopez   +2 more
exaly   +2 more sources

Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal [PDF]

Orphanet Journal of Rare Diseases, 2019
BackgroundMNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations.
Rana Yadak, Marjolein Breur, Marianna Bugiani   +2 more
openalex   +2 more sources

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) - like syndrome associated with polg gene mutations: a case report

Arquivos de Neuro-Psiquiatria
Case presentation: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) arises from mutations in the gene encoding thymidine phosphorylase (TP), a mitochondrial enzyme. This case involves a 55-year-old woman with lifelong gastrointestinal issues,
Raquel Câmara, Roberto Pereira Santos, Filipi Brito, Ana Carolina Rathsam Leite, Bárbara Pina Aiello, Matheus Jorand Cecatto, Amanda de Morais Affonso, Caio Faria Tardim, Victor Evangelista Rodrigues Pereira, Marcos RG de Freitas   +9 more
openalex   +2 more sources

Two new gene mutations for late onset mitochondrial neurogastrointestinal encephalopathy (MNGIE) [PDF]

Translational Neuroscience, 2012
Michael Pulley
exaly   +2 more sources

MNGIE: Diarrhea and leukoencephalopathy [PDF]

Neurology, 2002
A 47-year-old man had muscular atrophy, cachexia, and chronic diarrhea since age 12. At 33, he presented progressive hearing loss, ophthalmoplegia, and bilateral ptosis. Extended leukoencephalopathy was seen on MRI (figure, A). Muscle biopsy found ragged-red fibers …
P, Labauge, R, Durant, G, Castelnovo, A, Dubois   +3 more
openaire   +2 more sources