Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn

Journal of Inherited Metabolic Disease

Volumn 19, Issue 3, 1996, Pages 286-295

  Lombes, A ^a,c   Romero, N B ^b   Touati, G ^b   Frachon, P ^a   Cheval, M A ^b   Giraud, M ^b   Simon, D ^b   De Baulny, H Ogier ^b  

^a CNRS   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA;

ARTICLE; BRAIN MALFORMATION; CEREBROSPINAL FLUID LEVEL; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBUNIT; FEMALE; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; KETOACIDOSIS; LACTATE BLOOD LEVEL; LIVER BIOPSY; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOPATHY; NEUROLOGIC DISEASE; NEWBORN; PRESCHOOL CHILD; RESPIRATION CONTROL; RESPIRATORY FAILURE; SKIN FIBROBLAST; TISSUE LEVEL;

CYTOCHROME-C OXIDASE DEFICIENCY; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT, NEWBORN; MALE;

EID: 0029885377     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799256     Document Type: Article

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