Literature DB >> 30371039

Clinical Perspectives of Mitochondrial Disorders.

Josef Finsterer1.   

Abstract

Mitochondrial disorders are increasingly recognised world-wide and represent a diagnostic and therapeutic challenge. This is due to the peculiarities of mitochondrial genetics and the extreme genotypic and phenotypic heterogeneity of these disorders. Traditional time-consuming and expensive diagnostic steps are increasingly replaced by first-line genetic approaches. Despite recent advances in the treatment and prevention of mitochondrial disorders, therapeutic approaches are still limited mainly to non-invasive or invasive symptomatic measures. Copyright© of YS Medical Media ltd.

Entities:  

Keywords:  Diagnosis; Mitochondrial; Multiorgan; Multisystem; Nuclear DNA; Treatment; mtDNA

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Year:  2018        PMID: 30371039     DOI: 10.17458/per.vol16.2018.f.mitochondrialdisorders

Source DB:  PubMed          Journal:  Pediatr Endocrinol Rev        ISSN: 1565-4753


  2 in total

1.  Secondary manifestations of mitochondrial disorders.

Authors:  Josef Finsterer
Journal:  J Zhejiang Univ Sci B       Date:  2020-07       Impact factor: 3.066

2.  The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS.

Authors:  Young Mock Lee
Journal:  Yonsei Med J       Date:  2019-04       Impact factor: 2.759

  2 in total

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