title: A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.
authors.forename: A I
authors.initials: AI
authors.lastname: Al Aqeel
authors.forename: M S
authors.initials: MS
authors.lastname: Rashid
authors.forename: J Pn
authors.initials: JP
authors.lastname: Ruiter
authors.forename: L
authors.initials: L
authors.lastname: Ijlst
authors.forename: R Ja
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000595:Amino Acid Sequence; D002333:Carnitine Acyltransferases / Q000172:deficiency* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D012529:Saudi Arabia; D016415:Sequence Alignment
chemical_list: D002333:Carnitine Acyltransferases