scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1046480289 |
P356 | DOI | 10.1023/A:1020195616081 |
P698 | PubMed publication ID | 12408186 |
P50 | author | Ann Saada | Q41879584 |
Dorit Lev | Q86574561 | ||
P2093 | author name string | E Gilad | |
E Leshinsky-Silver | |||
T Lerman-Sagie | |||
A Levine | |||
S Houri | |||
P2860 | cites work | SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome | Q22008476 |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene | Q22010737 | ||
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. | Q24534480 | ||
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency | Q28140889 | ||
Cytochrome c oxidase deficiency | Q28189586 | ||
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA | Q28203048 | ||
Human cytochrome oxidase deficiency | Q34067750 | ||
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes | Q34247905 | ||
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency | Q34388122 | ||
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec | Q35194856 | ||
Liver transplantation in mitochondrial respiratory chain disorders | Q44975434 | ||
Clinical manifestations of mitochondria1 DNA depletion | Q47951863 | ||
Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency | Q48971246 | ||
Mitochondrial respiratory enzymes are a major target of iron toxicity in rat heart cells | Q63256336 | ||
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency | Q70167731 | ||
Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay | Q72017719 | ||
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure | Q72416019 | ||
Biochemical and molecular investigations in respiratory chain deficiencies | Q72792351 | ||
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies | Q74588161 | ||
P433 | issue | 5 | |
P921 | main subject | liver failure | Q970208 |
lactic acidosis | Q1500373 | ||
P304 | page(s) | 371-377 | |
P577 | publication date | 2002-09-01 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency | |
P478 | volume | 25 |
Q46661301 | Acute Infantile Liver Failure Due to Mutations in the TRMU Gene |
Q35998833 | Biochemical approach to the investigation of pediatric mitochondrial disease |
Q36303552 | Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients |
Q48871549 | Reversible multiorgan system involvement in a neonate with complex IV deficiency |
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