Results 1 to 10 of about 1,586 (183)

Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights. [PDF]

Orphanet J Rare Dis
Xu X, Xia J, Xu F, Wang M, Yang L, Chen X.   +5 more
europepmc   +1 more source

Progressive Neuromuscular Weakness and Gastrointestinal Dysfunction in a South Asian Adolescent: Unmasking Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) with a Novel TYMP Mutation [PDF]

Abdulla Maruf, Imran Sarker, Abdullah Al Mamun, Bithi Debnath, Mahbub‐Ul Alam, Sharif Uddin Khan   +5 more
openalex   +1 more source

Erratum: Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients [PDF]

, 2003
Çetin Kocaefe, Sevim Erdem‐Özdamar, Meral Özgüç, Ersin Tan   +3 more
openalex   +1 more source

Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre. [PDF]

Ann Indian Acad Neurol
Amalnath D, Saibaba J, Wadwekar V, Nagarajan K, Senthilvelan S.   +4 more
europepmc   +1 more source

COVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency. [PDF]

Allergy Asthma Immunol Res
Demir M, Dalgic CT, Bogatekin G, Gumusburun R, Ardeniz O.   +4 more
europepmc   +1 more source

Impiego della dialisi peritoneale nell'encefalopatia mitochondriale neurogastrointestinale (MNGIE): un Caso Clinico

, 2011
M.P. Zito, S. Maldone, Irene Capelli, Francesca Centofanti, C. Raimondi   +4 more
openalex   +1 more source

Impiego della dialisi peritoneale nell'encefalopatia mitochondriale neurogastrointestinale (MNGIE): un Caso Clinico

, 2018
M.P. Zito, S. Maldone, I. Capelli, F. Centofanti, C. Raimondi   +4 more
openalex   +2 more sources

Case report: A patient with mitochondrial neurogastrointestinal encephalomyopathy and chronic intestinal failure. [PDF]

Front Nutr, 2022
Barisic A, Ljubas Kelecic D, Vranesic Bender D, Karas I, Brinar M, Miletic V, Krznaric Z.   +6 more
europepmc   +1 more source

Lentiviral Hematopoietic Stem Cell Gene Therapy for MNGIE

, 2017
Rana Yadak
openalex   +2 more sources

Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report. [PDF]

J Med Case Rep, 2022
Khan ZR, Karam A, Ul Haq MA, Aman A, Karam AS.   +4 more
europepmc   +1 more source