Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child

Pediatric Emergency Care

Volumn 15, Issue 6, 1999, Pages 399-401

  Shetty, A K ^a   Craver, R D ^a   Harris, J A ^a   Schmidt Sommerfeld, E ^a  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Acylcarnitine profile; Delayed diagnosis; Fatty acid oxidation disorders; Medium chain acyl CoA dehydrogenase deficiency

Indexed keywords

ACYLCARNITINE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ANION GAP; ARTICLE; AUTOPSY; CASE REPORT; COMA; EMERGENCY WARD; ENZYME DEFICIENCY; FATALITY; FATTY ACID OXIDATION; FATTY LIVER; FEMALE; FEVER; GENE MUTATION; HUMAN; HUMAN CELL; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; INTENSIVE CARE; LETHARGY; METABOLIC ACIDOSIS; PRESCHOOL CHILD; SKIN FIBROBLAST;

EID: 0032804671     PISSN: 07495161     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006565-199912000-00006     Document Type: Article

References (20)