Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 33, Issue 5, 2010, Pages 507-511

  Van Maldegem, Bianca T ^a   Wanders, Ronald J A ^a   Wijburg, Frits A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE;

AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; DEVELOPMENTAL DISORDER; DNA DETERMINATION; EPILEPSY; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; MUSCLE HYPOTONIA; NEWBORN SCREENING; PATIENT COUNSELING; PEDIGREE ANALYSIS; REVIEW;

ACYL-COA DEHYDROGENASE; ASYMPTOMATIC DISEASES; BIOLOGICAL MARKERS; ENERGY METABOLISM; FATTY ACIDS; GENETIC TESTING; GENOTYPE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NEONATAL SCREENING; OXIDATION-REDUCTION; PHENOTYPE;

EID: 77957590905     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9080-z     Document Type: Review

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