Systemic infantile complex I deficiency with fatal outcome in two brothers

Neuropediatrics

Volumn 29, Issue 1, 1998, Pages 43-45

  Rubio Gozalbo, M E ^a   Ruitenbeek, W ^a   Wendel, U ^a   Sengers, R C A ^a   Trijbels, J M F ^a   Smeitink, J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Complex I deficiency; Mitochondria

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN;

ARTICLE; CASE REPORT; CHORION VILLUS; CONTROLLED STUDY; CONVULSION; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FATALITY; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SKELETAL MUSCLE; VOMITING;

CHORIONIC VILLI; FATAL OUTCOME; FIBROBLASTS; HUMANS; INFANT; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; NAD(P)H DEHYDROGENASE (QUINONE); NUCLEAR FAMILY; SEVERITY OF ILLNESS INDEX; SKIN;

EID: 0031935173     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973533     Document Type: Article

References (12)

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