Literature DB >> 14743651

Mitochondrial encephalopathy.

Nicola Longo1.   

Abstract

Mitochondrial disorders cause a wide spectrum of diseases in children. Their presentation is nonspecific with encephalomyopathy, failure to thrive, seizures, ophthalmoplegia, and sensorineural hearing loss. These disorders are progressive and are aggravated by fever and infections. They can be caused by mutations in nDNA or mtDNA. Diagnosis requires a complex battery of clinical studies coupled with diagnostic findings on muscle biopsy (abnormal structure, histochemistry, or enzyme studies) or DNA testing. Therapy for mitochondrial disorders remains largely ineffective.

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Year:  2003        PMID: 14743651     DOI: 10.1016/s0733-8619(03)00015-x

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  5 in total

1.  Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.

Authors:  Brian Bennett; Daniel Helbling; Hui Meng; Jason Jarzembowski; Aron M Geurts; Marisa W Friederich; Johan L K Van Hove; Michael W Lawlor; David P Dimmock
Journal:  Free Radic Biol Med       Date:  2016-01-08       Impact factor: 7.376

2.  Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations.

Authors:  Qiuying Chen; Kathryne Kirk; Yevgeniya I Shurubor; Dazhi Zhao; Andrea J Arreguin; Ifrah Shahi; Federica Valsecchi; Guido Primiano; Elizabeth L Calder; Valerio Carelli; Travis T Denton; M Flint Beal; Steven S Gross; Giovanni Manfredi; Marilena D'Aurelio
Journal:  Cell Metab       Date:  2018-04-12       Impact factor: 27.287

3.  Initial experiences with proton MR spectroscopy in treatment monitoring of mitochondrial encephalopathy.

Authors:  Seung-Koo Lee; Jinna Kim; Heung Dong Kim; Joon Soo Lee; Young Mock Lee
Journal:  Yonsei Med J       Date:  2010-09       Impact factor: 2.759

Review 4.  The neuroimaging of Leigh syndrome: case series and review of the literature.

Authors:  Eliana Bonfante; Mary Kay Koenig; Rahmat B Adejumo; Vinu Perinjelil; Roy F Riascos
Journal:  Pediatr Radiol       Date:  2016-01-06

5.  MELAS and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions.

Authors:  Nian Yu; Yan-Fang Zhang; Kang Zhang; Yuan Xie; Xing-Jian Lin; Qing Di
Journal:  eNeurologicalSci       Date:  2016-04-25
  5 in total

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