CYTOCHROME-C OXIDASE DEFICIENCY IN SUBACUTE NECROTIZING ENCEPHALOPATHY (LEIGH SYNDROME)

[1] MEASUREMENT OF CYTOCHROMES IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA, ISOLATED FROM FRESH AND FROZEN STORED MUSCLE SPECIMENS [J]. BIOCHEMICAL MEDICINE, 1978, 19 (03): : 366 - 373

[2] PROGRESSIVE CYTOCHROME-C-OXIDASE DEFICIENCY IN A CASE OF KEARNS-SAYRE SYNDROME - MORPHOLOGICAL, IMMUNOLOGICAL, AND BIOCHEMICAL-STUDIES IN MUSCLE BIOPSIES AND AUTOPSY TISSUES [J]. ANNALS OF NEUROLOGY, 1987, 21 (06) : 564 - 572

[3] MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (01) : 21 - 26

[4] CEREBRAL LACTIC-ACIDOSIS - DEFECTS IN PYRUVATE METABOLISM WITH PROFOUND BRAIN-DAMAGE AND MINIMAL SYSTEMIC ACIDOSIS [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (01) : 10 - 14

[5] BURNETTE WN, 1981, ANAL BIOCHEM, V112, P195, DOI 10.1016/0003-2697(81)90281-5

[6] 6 UNIDENTIFIED READING FRAMES OF HUMAN MITOCHONDRIAL-DNA ENCODE COMPONENTS OF THE RESPIRATORY-CHAIN NADH DEHYDROGENASE [J]. NATURE, 1985, 314 (6012) : 592 - 597

[7] DIECKMANN CL, 1984, J BIOL CHEM, V259, P4722

[8] DROSTE M, 1986, THESIS MARBURG

[9] ANALYSIS OF A YEAST NUCLEAR GENE INVOLVED IN THE MATURATION OF MITOCHONDRIAL PRE-MESSENGER RNA OF THE CYTOCHROME-OXIDASE SUBUNIT-1 [J]. CELL, 1983, 32 (01) : 77 - 87

[10] MOLECULAR HETEROGENEITY OF VARIANT ISOVALERYL-COA DEHYDROGENASE FROM CULTURED ISOVALERIC ACIDEMIA FIBROBLASTS [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (20) : 7081 - 7085

[1] MEASUREMENT OF CYTOCHROMES IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA, ISOLATED FROM FRESH AND FROZEN STORED MUSCLE SPECIMENS [J]. BIOCHEMICAL MEDICINE, 1978, 19 (03): : 366 - 373

[2] PROGRESSIVE CYTOCHROME-C-OXIDASE DEFICIENCY IN A CASE OF KEARNS-SAYRE SYNDROME - MORPHOLOGICAL, IMMUNOLOGICAL, AND BIOCHEMICAL-STUDIES IN MUSCLE BIOPSIES AND AUTOPSY TISSUES [J]. ANNALS OF NEUROLOGY, 1987, 21 (06) : 564 - 572

[3] MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (01) : 21 - 26

[4] CEREBRAL LACTIC-ACIDOSIS - DEFECTS IN PYRUVATE METABOLISM WITH PROFOUND BRAIN-DAMAGE AND MINIMAL SYSTEMIC ACIDOSIS [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (01) : 10 - 14

[5] BURNETTE WN, 1981, ANAL BIOCHEM, V112, P195, DOI 10.1016/0003-2697(81)90281-5

[6] 6 UNIDENTIFIED READING FRAMES OF HUMAN MITOCHONDRIAL-DNA ENCODE COMPONENTS OF THE RESPIRATORY-CHAIN NADH DEHYDROGENASE [J]. NATURE, 1985, 314 (6012) : 592 - 597

[7] DIECKMANN CL, 1984, J BIOL CHEM, V259, P4722

[8] DROSTE M, 1986, THESIS MARBURG

[9] ANALYSIS OF A YEAST NUCLEAR GENE INVOLVED IN THE MATURATION OF MITOCHONDRIAL PRE-MESSENGER RNA OF THE CYTOCHROME-OXIDASE SUBUNIT-1 [J]. CELL, 1983, 32 (01) : 77 - 87

[10] MOLECULAR HETEROGENEITY OF VARIANT ISOVALERYL-COA DEHYDROGENASE FROM CULTURED ISOVALERIC ACIDEMIA FIBROBLASTS [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (20) : 7081 - 7085