Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

scientific article published on 01 March 1994

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/BF01958984
P698PubMed publication ID8181505

P2093author name stringP Edery
J M Saudubray
M Fabre
A Rötig
A Munnich
D Rabier
C Rambaud
D Chretien
B Gérard
R Cerrone
P2860cites workIsoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiencyQ34199913
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancyQ34263470
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseasesQ35196481
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 encephalopathyQ35575407
Mitochondrial DNA mutations and neuromuscular diseaseQ38622355
Assessment of the mitochondrial respiratory chainQ44557191
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 myopathiesQ49170886
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 onsetQ56241335
Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndromeQ63681447
Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chainQ67823163
Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activityQ69832967
P433issue3
P304page(s)190-194
P577publication date1994-03-01
P1433published inEuropean Journal of PediatricsQ15755736
P1476titleLiver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure
P478volume153

Reverse relations

cites work (P2860)
Q34386724Clinical spectrum and diagnosis of mitochondrial disorders
Q30331712Defects in mitochondrial respiratory complexes III and IV, and human pathologies.
Q71072135Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
Q72995595Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome
Q63681439Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
Q45115764Other hereditary diseases and the liver
Q35070990Progress in treatment and outcome for children with neonatal haemochromatosis
Q51699078Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.

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