Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
Albers
S
S
Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA. albersbremer@al.tch.harvard.edu
Levy
H L
HL
Irons
M
M
Strauss
A W
AW
Marsden
D
D
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D002210:Caprylates / Q000097:blood; D002331:Carnitine / Q000097:blood / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003998:Dicarboxylic Acids / Q000652:urine; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives* / Q000652:urine; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening
D002210:Caprylates; D003998:Dicarboxylic Acids; C024571:N-caproylglycine; C013264:suberylglycine; D044944:Acyl-CoA Dehydrogenases; C031492:octanoic acid; D002331:Carnitine; D005998:Glycine