Results 41 to 50 of about 1,586 (183)

Pregnancy in MNGIE: a clinical and metabolic honeymoon [PDF]

Annals of Clinical and Translational Neurology, 2020
AbstractMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an inherited disease caused by a deficiency in thymidine phosphorylase and characterized by elevated systemic deoxyribonucleotides and gastrointestinal (GI) and neurological manifestations.
Pappalardo, Pauline, Benoist, Jean‐françois, Bax, Bridget, Carra‐dallière, Clarisse, Marelli, Cecilia, Levene, Michele, Begue, Laetitia, Rolland, Anne, Flori, Nicolas, Rivier, Francois, Blanchet, Catherine, Munnich, Arnold, Altwegg, Romain, Meyer, Pierre, Roubertie, Agathe   +14 more
openaire   +2 more sources

P086: Sensorineural hearing loss in a child with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) treated with cochlear implantation

Genetics in Medicine Open
Michael Finkel, Kelly Kennelly, Vinod K. Misra   +2 more
openalex   +2 more sources

AAV8 gene therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in a patient's liver maintained ex situ for 9 days

Clinical medicine (London)
Teresa Brevini, Lisa Swift, Helen Reynolds, John M. Ong, Richard Stopforth, Yogeshkumar Malam, Harry Spiers, AnnaPaterson, Adam Duckworth, Arthur Kaser, Vassillis Kosmoliaptsis, Ramón Martí, Jelle van den Ameele, Gwilym J. Webb, Christopher J.E. Watson, Andrew J. Butler, Fotios Sampaziotis   +16 more
openalex   +2 more sources

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. Here we report a patient with MNGIE in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course.
P Ayat Elahi, A Tarazi, Shahriar Nafissi
  +6 more sources

The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG‐related disorders

IUBMB Life, Volume 75, Issue 12, Page 983-1002, December 2023., 2023
Abstract Most eukaryotes possess a mitochondrial genome, called mtDNA. In animals and fungi, the replication of mtDNA is entrusted by the DNA polymerase γ, or Pol γ. The yeast Pol γ is composed only of a catalytic subunit encoded by MIP1. In humans, Pol γ is a heterotrimer composed of a catalytic subunit homolog to Mip1, encoded by POLG, and two ...
Alexandru Ionut Gilea, Martina Magistrati, Ilenia Notaroberto, Natascia Tiso, Cristina Dallabona, Enrico Baruffini   +5 more
wiley   +1 more source

Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS

Journal of Mass Spectrometry, 2006
Giancarlo La Marca, Sabrina Malvagia, Bruno Casetta   +2 more
exaly   +3 more sources

Polymeric nanoreactors for enzyme replacement therapy of MNGIE [PDF]

Journal of Controlled Release, 2010
The lack of a crucial metabolic enzyme can lead to accumulating substrate concentrations in the bloodstream and severe human enzyme deficiency diseases. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is such a fatal genetic disorder, caused by a thymidine phosphorylase deficiency.
De Vocht, Caroline, Ranquin, An, Van Ginderachter, Jo, Vanhaecke, Tamara, Rogiers, Vera, Van Gelder, Patrick, Versees, Wim, Steyaert, Jan   +7 more
openaire   +4 more sources

P0966 GASTROINTESTINAL MANIFESTATIONS OF MNGIE DISEASE [PDF]

Journal of Pediatric Gastroenterology and Nutrition, 2004
Hussein Shamaly, N. Khamayseh, Hanna Mandel   +2 more
openalex   +2 more sources

NEW HORIZONS IN THE TREATMENT OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE): FROM PATHOGENESIS TO THERAPIES

Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura, Alimentaria, Piscaria et Zootechnica
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE), also known as mitochondrial gastrointestinal encephalopathy, is an extremely rare hereditary metabolic disorder caused by mutations in the nuclear gene TYMP, which encodes the enzyme
Dominika Trzmiel
semanticscholar   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source