Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

Fatal infantile lactic acidosis is a severe metabolic disorder characterized by the onset of lactic acidosis within the 1st d of life and early death. We found a combined respiratory-chain enzyme deficiency associated with mitochondrial DNA (mtDNA) depletion in a small consanguineous family with thi...

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Main Authors: Ostergaard, Elsebet , Christensen, Ernst , Kristensen, Elisabeth , Mogensen, Bodil , Duno, Morten , Shoubridge, Eric A. , Wibrand, Flemming 
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Human Genetics 2007
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950792/
https://ncbi.nlm.nih.gov/pubmed/17668387
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