Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler et al. · PubMed · 1991 · 590 citations

Life Sciences, Genetics, Molecular Genetics +16

Oxidative Phosphorylation Diseases

John M. Shoffner, Douglas C. Wallace · Advances in human genetics · 1990 · 340 citations

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

Hans-Juergen Tritschler, Francesca Andreetta, Carlos T. Moraes et al. · Neurology · 1992 · 215 citations

Life Sciences, Pathology, Pediatrics +16

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin

Rose‐Mary Boustany, June R. Aprille, John Halperin et al. · Annals of Neurology · 1983 · 113 citations

Life Sciences, Biochemistry, Ophthalmology +17

Fatal infantile liver failure associated with mitochondrial DNA depletion

Mercedes R.M. Mazziotta, Enzo Ricci, Enrico Bertini et al. · The Journal of Pediatrics · 1992 · 109 citations

Medicine, Pathobiology, Pathology +14