Genotype-phenotype correlations: Sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Coughlin II, Curtis R ^a   Ficicioglu, Can ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACADVL PROTEIN, HUMAN; LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

CASE REPORT; COMPLICATION; DEFICIENCY; ENZYMOLOGY; FATALITY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; HYPOGLYCEMIA; LIPID METABOLISM, INBORN ERRORS; MALE; MISSENSE MUTATION; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; RISK FACTOR; SUDDEN INFANT DEATH; ARTICLE; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; MUSCLE DISEASE; SUDDEN INFANT DEATH SYNDROME;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; HYPOGLYCEMIA; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; MUTATION, MISSENSE; PHENOTYPE; RISK FACTORS; SUDDEN INFANT DEATH;

EID: 84897954734     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9041-6     Document Type: Article

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