Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome

NONDROPLET ULTRASTRUCTURAL DEMONSTRATION OF CYTOCHROME OXIDASE ACTIVITY WITH A POLYMERIZING OSMIOPHILIC REAGENT, DIAMINOBENZIDINE (DAB)

1968 • 892 citations

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

1951 • 761 citations

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

1992 • 476 citations

Cytochrome c oxidase deficiency in leigh syndrome

1987 • 368 citations

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

1991 • 106 citations

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho transformants

1995 • 83 citations

Molecular genetic characterization of an X‐linked form of Leigh's syndrome

1993 • 82 citations

Cytochrome c oxidase deficiency in Leigh's syndrome

1989 • 81 citations

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy

1985 • 78 citations

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

1991 • 73 citations

Lacticacidemia

1993 • 69 citations

Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy

1987 • 61 citations

Characterization of cytochrome‐c oxidase mutants in human fibroblasts

1988 • 56 citations

Immunochemical study in three patients with cytochromec oxidase deficiency presenting leigh's encephalomyelopathy

1987 • 32 citations

Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)

1988 • 24 citations

Cytochromec oxidase deficiency in three patients with Leigh's disease

1988 • 7 citations