Cerebellar hypoplasia in respiratory chain dysfunction

Neuropediatrics

Volumn 27, Issue 4, 1996, Pages 216-218

  Lincke, C R ^a   Van Den Bogert, C ^a   Nijtmans, L G J ^a   Wanders, R J A ^a   Tamminga, P ^a   Barth, P G ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Cerebellar hypoplasia; Cytochrome c oxidase; Encephalomyopathy; Mitochondrial respiratory chain disorder

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID;

ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CEREBROSPINAL FLUID LEVEL; CITRIC ACID CYCLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; FEMALE; HEMISPHERE; HUMAN; INBORN ERROR OF METABOLISM; MITOCHONDRIAL RESPIRATION; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RESPIRATORY CHAIN;

EID: 0029781669     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973792     Document Type: Article

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