Fatal hepatic short-chain 1-3-hydroxyacyl-coenzyme dehydrogenase deficiency: Clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial β-oxidation

Pediatric and Developmental Pathology

Volumn 2, Issue 4, 1999, Pages 337-345

  Bennett, Michael J ^a   Spotswood, Sheila D ^b   Ross, Karen F ^b   Comfort, Susan ^a   Koonce, Robert ^c   Boriack, Richard L ^c   Ijlst, Lodewijk ^d   Wanders, Ronald J A ^d  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b Southwest Institute of Forensic Science Dallas   (United States)

^c CHILDREN S MEDICAL CENTER   (United States)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Hydroxyacyl coenzyme A dehydrogenase; Mitochondrial oxidation; Spinal muscular atrophy; Sudden infant death; Werdnig Hoffman disease

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE;

ARTICLE; AUTOPSY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC APPROACH ROUTE; DISEASE COURSE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FATALITY; FATTY ACID OXIDATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; INFANT; MALE; PRIORITY JOURNAL; TISSUE SPECIFICITY;

3-HYDROXYACYL COA DEHYDROGENASES; 3-HYDROXYBUTYRIC ACID; BLOTTING, WESTERN; FATAL OUTCOME; HUMANS; INFANT; LIVER; MALE; MITOCHONDRIA, LIVER; MUSCLE, SKELETAL; OXIDATION-REDUCTION; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; THYMUS GLAND;

EID: 0033039270     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100249900132     Document Type: Article

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