Ontology highlight
ABSTRACT:
SUBMITTER: Taskin BD
PROVIDER: S-EPMC6020828 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Taskin Birce Dilge BD Karalok Zeynep Selen ZS Gurkas Esra E Aydin Kursad K Aydogmus Ummu U Ceylaner Serdar S Karaer Kadri K Yilmaz Cahide C Pearl Phillip Lawrence PL
Journal of child neurology 20160218 7
Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutam ...[more]