Results 21 to 30 of about 1,586 (183)

Letter to the Editor: Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants-Authors' Reply. [PDF]

Eur J Neurol
European Journal of Neurology, Volume 33, Issue 6, June 2026.
Capece G, Manara R, Salviati L, Viscomi C, Bello L, Pegoraro E.   +5 more
europepmc   +2 more sources

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstruction. [PDF]

J Intern Med
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Boschetti E, Neri I, Caporali L, Bonora E, Malagelada C, Fiorini C, Ormanbekova D, Berghella A, D'Angelo R, Rinaldi R, Caliceti C, Costanzini A, Falconi M, Stanghellini V, Ratti S, Manzoli L, Carelli V, De Giorgio R.   +17 more
europepmc   +2 more sources

CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders [PDF]

Biochimica Et Biophysica Acta - General Subjects, 2012
Although causative mutations have been identified for numerous mitochondrial disorders, few disease-modifying treatments are available. Two examples of treatable mitochondrial disorders are coenzyme Q(10) (CoQ(10) or ubiquinone) deficiency and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Here, we describe clinical and molecular ...
Michio Hirano, Caterina Garone, Catarina M Quinzii   +2 more
exaly   +5 more sources

Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE. [PDF]

J Transl Med
Inherited deficiency of thymidine phosphorylase (TP), encoded by TYMP, leads to a rare disease with multiple mitochondrial DNA (mtDNA) abnormalities, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Du J, Liu F, Liu X, Zhao D, Wang D, Sun H, Yan C, Zhao Y.   +7 more
europepmc   +2 more sources

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series. [PDF]

J Pediatr Gastroenterol Nutr
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Wolfson S, Butrviengpunt M, Tjaden N, Benitez AJ, Kota AS, Webster J, Kapavarapu P, Mousa H, Heuckeroth RO.   +8 more
europepmc   +2 more sources

Letter re: Aseptic pleocytosis can only be classified as a phenotypic manifestation of MNGIE after exclusion of all differential causes. [PDF]

J Cent Nerv Syst Dis
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Finsterer J, Mehri S.
europepmc   +2 more sources

Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review. [PDF]

Radiol Case Rep
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. Diffuse leukoencephalopathy in brain MRI is a hallmark of MNGIE.
Christodoulou MV, Anagnostou N, Zikou AK.   +2 more
europepmc   +2 more sources

Insights from the SNP analysis of TYMP gene linking MNGIE. [PDF]

Bioinformation
TYMP gene, which codes for thymidine phosphorylase (TP) is also known as platelet-derived endothelial cell growth factor (PD-ECGF). TP plays crucial roles in nucleotide metabolism and angiogenesis.
Sifeddine N, Elkhattabi L, Ait El Cadi C, Krami AM, Mounaji K, El Khalfi B, Barakat A.   +6 more
europepmc   +2 more sources

Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant [PDF]

International Journal of Molecular Sciences, 2022
mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder characterized by thymidine phosphorylase (TP) enzyme defect. The absence of TP activity induces the imbalance of mitochondrial nucleotide pool, leading to impaired ...
Elisa Boschetti, Leonardo Caporali, Roberto D’Angelo, Carolina Malagelada, Anna Accarino, Maria Teresa Dotti, Roberta Costa, Giovanna Cenacchi, Loris Pironi, Rita Rinaldi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valério Carelli, Roberto De Giorgio   +14 more
openalex   +2 more sources

Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report

Journal of International Child Neurology Association, 2021
We report about a family with three of five siblings affected by a variable remitting-relapsing disease with epileptic seizures, coma and abdominal crises, and lethal outcome in all.
Rudolf Korinthenberg, Janbernd Kirschner, Matthias Eckenweiler, Robert Steinfeld, Nana Nino Tatishvili, Rita Horváth, Stephanie Kleinle, Angela Abicht   +7 more
openalex   +3 more sources