title: Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
authors.affiliation: Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: Pomponio
authors.forename: P T
authors.initials: PT
authors.lastname: Ozand
authors.forename: M
authors.initials: M
authors.lastname: Al Essa
authors.forename: B
authors.initials: B
authors.lastname: Wolf
mesh_terms: D000483:Alleles; D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics*; D001710:Biotin / Q000378:metabolism; D043523:Biotinidase; D002675:Child, Preschool; D004247:DNA / Q000032:analysis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012529:Saudi Arabia; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D001710:Biotin; D004247:DNA; D000581:Amidohydrolases; D043523:Biotinidase