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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 25 - 39
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
Journal Article
Journal Article
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2017, Volume 48, Issue 2, pp. 108 - 110
Abstract Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive mitochondrial disease... 
Short Communication | lactic acidosis | leukoencephalopathy | LTBL | EARS2 | PEDIATRICS | HOMOZYGOUS EARS2 MUTATION | LACTIC-ACIDOSIS | MITOCHONDRIAL DISEASE | SPECTRUM | CLINICAL NEUROLOGY
Journal Article