Results 31 to 40 of about 6,956 (184)

Pathology of Mitochondrial Encephalomyopathies [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2005
ABSTRACT:Muscle biopsy provides the best tissue to confirm a mitochondrial cytopathy. Histochemical features often correlate with specific syndromes and facilitate the selection of biochemical and genetic studies. Ragged-red fibres nearly always indicate a combination defect of respiratory complexes I and IV.
Harvey B, Sarnat, José, Marín-García
openaire   +2 more sources

Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study [PDF]

Orphanet J Rare Dis
Dietrich Stoevesandt, Axel Schlitt, Philipp Röntgen, Torsten Kraya   +3 more
openalex   +2 more sources

Commentary: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: neuroradiological features and their implications for underlying pathogenesis [PDF]

Frontiers in Neuroscience, 2023
Josef Finsterer, Sounira Mehri
doaj   +2 more sources

Safe Use of Metformin in Mitochondrial Diabetes in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes: Insights From a Patient With m.3243A>G Mutation [PDF]

AACE Endocrinol Diabetes
Thanisha Santhosh, Prakriti Ramamurthy, Vinaya Simha   +2 more
openalex   +2 more sources

Radiologic Findings in a Patient With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes Syndrome: A Case Report [PDF]

Cureus
Sariah Watchalotone, Halley M. McDonald, Jessica Degolier, Alex Schlangen, Imtiaz Ahmed   +4 more
openalex   +2 more sources

A celiac case mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

The Turkish Journal of Pediatrics, 2016
Celiac disease (CD) is a chronic disease involving a number of systems in addition to gastrointestinal tract. Although not clear, it has been supposed that the neurological symptoms of CD develop due to immune-mediated mechanisms.
Erhan Aksoy, Serap Tıraş-Teber, Gülhis Deda   +2 more
doaj   +1 more source

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

Anesthetic Management With Remimazolam for Adolescent Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-like Episodes (MELAS): A Case Report [PDF]

Anesth Prog
Mie Ueda, Nobuhiro Tanaka, Yoshihiro Momota, Masahiko Kawaguchi   +3 more
openalex   +3 more sources

Case report: A patient with mitochondrial neurogastrointestinal encephalomyopathy and chronic intestinal failure

Frontiers in Nutrition, 2022
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disorder commonly diagnosed in later disease stages when it prominently manifests as malnutrition. We report on a female patient diagnosed with MNGIE at the age of 36.
Ana Barisic, Ana Barisic, Dina Ljubas Kelecic, Darija Vranesic Bender, Irena Karas, Marko Brinar, Marko Brinar, Vladimir Miletic, Zeljko Krznaric, Zeljko Krznaric, Zeljko Krznaric   +10 more
doaj   +1 more source

Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations

Annals of Indian Academy of Neurology, 2019
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ...
Hongyan Huang, Xinglong Yang, Ling Liu, Yanming Xu   +3 more
doaj   +1 more source