Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency

Molecular Genetics and Metabolism

Volumn 79, Issue 4, 2003, Pages 288-293

  Leshinsky Silver, E ^a   Levine, A ^a   Nissenkorn, A ^a   Barash, V ^b   Perach, M ^a   Buzhaker, E ^a   Shahmurov, M ^a   Polak Charcon, S ^c   Lev, D ^a   Lerman Sagie, T ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

Author keywords

CoQ depletion; Hepatic fibrosis; Leigh; Liver failure; Mitochondrial disease; Tyrosinemia

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UBIQUINONE;

ARTICLE; ATAXIA; BILE DUCT DISEASE; CASE REPORT; CELL PROLIFERATION; CEREBELLUM ATROPHY; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ENZYME DEFICIENCY; EPILEPSY; HEARING LOSS; HEPATITIS; HUMAN; HUMAN TISSUE; HYPERAMMONEMIA; INFLAMMATORY INFILTRATE; LEIGH DISEASE; LIVER BIOPSY; LIVER FAILURE; LIVER HOMOGENATE; MALE; MIGRAINE; MITOCHONDRIAL RESPIRATION; MUSCLE WEAKNESS; MYOGLOBINURIA; NEWBORN; OXIDATIVE PHOSPHORYLATION; OXPHOS DEFICIENCY; PANCREAS INSUFFICIENCY; PRIORITY JOURNAL; RESPIRATORY CHAIN; TYROSINEMIA;

ATAXIA;

EID: 12444288132     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00097-0     Document Type: Article

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