Infantile mitochondrial encephalopathy

Seminars in Fetal and Neonatal Medicine

Volumn 16, Issue 4, 2011, Pages 205-215

  Uziel, Graziella ^a   Ghezzi, Daniele ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Encephalomyopathies; Mitochondrial disorders; Mitochondrial DNA; Respiratory chain deficiencies

Indexed keywords

BIOCHEMICAL MARKER; FLAVOPROTEIN; LACTIC ACID; METRONIDAZOLE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PYRUVATE DEHYDROGENASE COMPLEX; RIBOFLAVIN; TRANSFER RNA;

ALEXANDER DISEASE; ALLELE; ALPERS DISEASE; AMINO TERMINAL SEQUENCE; AMINOACIDURIA; BRAIN DISEASE; CANAVAN DISEASE; CARBOXY TERMINAL SEQUENCE; CARDIOMYOPATHY; CHILD DEATH; CHOLESTASIS; COMPLEX II DEFICIENCY; COMPLEX III DEFICIENCY; CYTOCHROME C OXIDASE DEFICIENCY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SYNTHESIS; ENCEPHALOCARDIOMYOPATHY; ENZYME ACTIVITY; EPILEPSY; ETHYLMALONIC ENCEPHALOPATHY; GENE MUTATION; GENETIC CODE; GRAY MATTER; GROWTH RETARDATION; HUMAN; INFANT DISEASE; IRON OVERLOAD; LACTIC ACIDOSIS; LEIGH DISEASE; LEUKOENCEPHALOPATHY; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL ENCEPHALOPATHY; MOLECULAR GENETICS; NERVE DEGENERATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OXIDATIVE PHOSPHORYLATION; PRENATAL DIAGNOSIS; PROTEIN SYNTHESIS; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RESPIRATORY CHAIN; REVIEW; SPINOCEREBELLAR DEGENERATION; SUPPLEMENTATION; TOXICITY; VITAMIN SUPPLEMENTATION; WHITE MATTER;

DNA, MITOCHONDRIAL; HUMANS; INFANT, NEWBORN; LEIGH DISEASE; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES;

EID: 79959869855     PISSN: 1744165X     EISSN: 18780946     Source Type: Journal    
DOI: 10.1016/j.siny.2011.04.003     Document Type: Review

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