Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder

Neurology

Volumn 52, Issue 6, 1999, Pages 1255-1264

  Kirby, D M ^a   Crawford, M ^a   Cleary, M A ^a,b   Dahl, H H M ^a   Dennett, X ^c   Thorburn, David ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL FEATURE; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC ERROR; DISEASE MARKER; DISEASE SEVERITY; ENZYME ACTIVITY; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; INFANT; LABORATORY TEST; LACTATE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; NEWBORN; PRIORITY JOURNAL; RECURRENCE RISK; TISSUE SPECIFICITY; X CHROMOSOME LINKAGE;

EID: 0032893995     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.6.1255     Document Type: Article

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