Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry

Journal of Pediatrics

Volumn 156, Issue 3, 2010, Pages 492-494

  Ficicioglu, Can ^a   Coughlin II, Curtis R ^a   Bennett, Michael J ^a   Yudkoff, Marc ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CREATINE KINASE; GLUCOSE;

ARTICLE; ARTIFICIAL VENTILATION; AUTOPSY; BRAIN DAMAGE; BRAIN EDEMA; BRAIN INJURY; CASE REPORT; COMA; DISEASE SEVERITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; GENE SEQUENCE; GLUCAGON BLOOD LEVEL; HUMAN; HYPOGLYCEMIA; HYPOXIA; INFANT; INTUBATION; MISSENSE MUTATION; MULTIPLE ORGAN FAILURE; NEWBORN; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; FALSE NEGATIVE REACTIONS; FATAL OUTCOME; FEMALE; HUMANS; HYPOGLYCEMIA; INFANT; INFANT, NEWBORN; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 77049115782     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.10.031     Document Type: Article

References (14)

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