scholarly article | Q13442814 |
P356 | DOI | 10.1007/BF01958984 |
P698 | PubMed publication ID | 8181505 |
P2093 | author name string | P Edery | |
J M Saudubray | |||
M Fabre | |||
A Rötig | |||
A Munnich | |||
D Rabier | |||
C Rambaud | |||
D Chretien | |||
B Gérard | |||
R Cerrone | |||
P2860 | cites work | Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency | Q34199913 |
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy | Q34263470 | ||
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases | Q35196481 | ||
Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy | Q35575407 | ||
Mitochondrial DNA mutations and neuromuscular disease | Q38622355 | ||
Assessment of the mitochondrial respiratory chain | Q44557191 | ||
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. | Q48735604 | ||
Demonstration of two isoforms of subunit VIIa of cytochrome c oxidase from human skeletal muscle. Implications for mitochondrial myopathies | Q49170886 | ||
The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle. | Q52450337 | ||
Hepatic failure in disorders of oxidative phosphorylation with neonatal onset | Q56241335 | ||
Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome | Q63681447 | ||
Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain | Q67823163 | ||
Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity | Q69832967 | ||
P433 | issue | 3 | |
P304 | page(s) | 190-194 | |
P577 | publication date | 1994-03-01 | |
P1433 | published in | European Journal of Pediatrics | Q15755736 |
P1476 | title | Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure | |
P478 | volume | 153 |
Q34386724 | Clinical spectrum and diagnosis of mitochondrial disorders |
Q30331712 | Defects in mitochondrial respiratory complexes III and IV, and human pathologies. |
Q71072135 | Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease |
Q72995595 | Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome |
Q63681439 | Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation |
Q45115764 | Other hereditary diseases and the liver |
Q35070990 | Progress in treatment and outcome for children with neonatal haemochromatosis |
Q51699078 | Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency. |
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