Results 101 to 110 of about 1,276 (185)

Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B. [PDF]

J Med Case Rep, 2023
Finsterer J.
europepmc   +1 more source

Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy. [PDF]

Int J Mol Sci
Bax BE, Uçar SK.
europepmc   +1 more source

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant. [PDF]

Int J Mol Sci
Gilio D, Pelosini C, Magno S, Venanzi JM, Daniotti M, Paoli M, Palladino L, Sessa MR, Ricci F, Procopio E, Ceccarini G, Santini F.   +11 more
europepmc   +1 more source

Miller Fisher Syndrome Should Only be Diagnosed if the Diagnostic Criteria are Met and All Other Differential Diagnoses Have Been Ruled Out. [PDF]

J Am Coll Emerg Physicians Open
Finsterer J.
europepmc   +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

Aseptic Pleocytosis Can Only be Classified as a Phenotypic Manifestation of MNGIE After Exclusion of all Differential Causes. [PDF]

J Cent Nerv Syst Dis
Al-Sahlawi Z, Redha NA, Hasan H.
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

Late-onset mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes with chronic intestinal pseudo-obstruction: a case-based review. [PDF]

Front Mol Biosci
Zhang L, Lin J, Li F, Jia Y, Li J, Wang X.   +5 more
europepmc   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports. [PDF]

Paediatr Anaesth
Johnson BM, Johnson SC.
europepmc   +1 more source

Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration. [PDF]

Sci Rep
Wurth R, Turgeon C, Lacey J, Stander Z, Gavrilov D, Hall PL, Matern D, Schultz M, Tortorelli S, Oglesbee D.   +9 more
europepmc   +1 more source