Literature DB >> 30924004

Clinical diagnosis in the era of DNA testing.

Scott E Brodie1.   

Abstract

Year:  2019        PMID： 30924004     DOI： 10.1007/s10633-019-09689-4

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN： 0012-4486            Impact factor:   2.379


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  4 in total

1.  A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Biochim Biophys Acta       Date:  1991-10-21

2.  A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Nature       Date:  1990-12-13       Impact factor: 49.962

3.  Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.

Authors:  S G Pavlakis; P C Phillips; S DiMauro; D C De Vivo; L P Rowland
Journal:  Ann Neurol       Date:  1984-10       Impact factor: 10.422

4.  Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder.

Authors:  Josef Finsterer; Adam Bastovansky
Journal:  Rev Med Chil       Date:  2015-09       Impact factor: 0.553
  4 in total

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