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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12

Known as: COXPD12, LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE, LTBL 
National Institutes of Health

Papers overview

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Review
2019
Review
2019
BackgroundThe mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate… 
Review
2017
Review
2017
Mitochondrial translation defects are important causes of early onset mitochondrial disease. Although the biochemical (combined… 
2016
2016
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2… 
2015
2015
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a novel mitochondrial disease caused by… 
2013
2013
Sir, we read with great interest the report describing 12 patients presented with early onset severe neurological disease… 
Review
2013
Review
2013
Active learning methodologies have evolved over the years in order to increase student input in the learning process. One example… 
Highly Cited
2012
Highly Cited
2012
In the large group of genetically undetermined infantile-onset mitochondrial encephalopathies, multiple defects of mitochondrial… 
2003
2003
The foot and mouth disease (FMD) epidemic in the UK in 2001 had devastating consequences, including the slaughter of millions of…