Results 141 to 150 of about 1,586 (183)

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

Clinica chimica acta; international journal of clinical chemistry, 2019
INTRODUCTION Mitochondrial diseases are a group of disorders caused mainly by the impairment of the mitochondrial oxidative phosphorylation process, due to mutations either in the mitochondrial or nuclear genome.
R. Felhi, L. Sfaihi, M. Charif, V. Desquiret-Dumas, C. Bris, D. Goudenège, L. Ammar-keskes, M. Hachicha, D. Bonneau, V. Procaccio, P. Reynier, P. Amati‐Bonneau, G. Lenaers, F. Fakhfakh   +13 more
semanticscholar   +1 more source

[MNGIE syndrome in 2 siblings].

Revue neurologique, 1998
Two siblings (one man, one woman), presenting with diarrhea, severe weight loss peripheral neuropathy, ophthalmoparesis, asymptomatic leukoencephalopathy were diagnosed as a new cases of Mitochondrial Neuro Gastro Intestinal Encephalomyopathy syndrome (MNGIE).
M, Debouverie, M, Wagner, X, Ducrocq, Y, Grignon, B, Mousson, M, Weber   +5 more
openaire   +1 more source

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

Journal of Inherited Metabolic Disease, 2002
AbstractWe report the presence of the unusual nucleoside deoxyuridine in the urine of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (MIM 603041) due to thymidine phosphorylase (TP:EC 2.4.2.4) deficiency. Thymidine, uracil and thymine were also elevated.
Fairbanks, L.D., Marinaki, A.M., Carrey, E.A., Hammans, S.R., Duley, J.A.   +4 more
openaire   +5 more sources

Trigeminal neuralgia in a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Journal of Clinical Neuroscience, 2005
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal-recessive disease associated with multiple deletions of mitochondrial DNA in skeletal muscle. MNGIE is a multisystem syndrome affecting muscle, peripheral, and central nervous systems and the gastrointestinal tract. A 25-year-old man is presented with 3 years history of right
Selçuk, Peker, M, Necmettin Pamir
openaire   +3 more sources

Infusion of platelets transiently reduces nucleoside overload in MNGIE

Neurology, 2006
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). In this work, we report that infusion of platelets from healthy donors to patients with MNGIE restored transiently circulating TP and reduced plasma dThd and ...
Lara, M. C., Weiss, B., Illa, I., Madoz, P., Massuet, L., Andreu, A. L., VALENTINO, MARIA LUCIA, Anikster, Y., Hirano, M., Martí, R.   +9 more
openaire   +3 more sources

Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE)

2019
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disease due to mutations in TYMP, which encodes the cytosolic enzyme thymidine phosphorylase (TP). MNGIE is clinically characterized by severe gastrointestinal dysmotility, cachexia, chronic progressive external ophthalmoplegia, sensorimotor peripheral
Shufang Li, Ramon Martí, Michio Hirano
openaire   +1 more source

A rare cause of anejaculation: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome: case report

International journal of impotence research, 2023
S. Unal
semanticscholar   +1 more source

Response to “Letter to the editor” regarding “Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease”

American Journal of Medical Genetics. Part A, 2023
Heng Wang, G. Ruan, Shan Yang, Hui Li, Zixi Sun, Bowen Tian, P. Yan, Yue Li, Hong Yang, Yong Zhong, J. Qian   +10 more
semanticscholar   +1 more source

Mitochondrial DNA Depletion syndrome 1 (MNGIE type) - a rare cause of premature ovarian failure?

Endocrine Abstracts, 2023
Michael Matheou, G. Tan, F. Karpe, S. Brady, Louisa Kent, K. Javaid, J. Marshall, Deborah Shears, H. Turner   +8 more
semanticscholar   +1 more source

MNGIE

2009
Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Alexander K. C. Leung, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Toshio Nishikimi, Patrick T. S. Ma, Siobhan D. Ma, Alexander K. C. Leung, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, Alexander K. C. Leung, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Alexander K. C. Leung, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander K. C. Leung, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Dieter Metze, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Alexander K. C. Leung, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Thomas Klopstock, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Karin Jurkat-Rott, Frank Lehmann-Horn, Olayinka Raheem, Tiina Suominen, Bjarne Udd   +194 more
openaire   +1 more source