title: Neurological findings in aminoacylase 1 deficiency.
authors.affiliation: Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics and Adolescent Medicine, University Children's Hospital Freiburg, Germany. Joern.Oliver.Sass@uniklinik-freiburg.de
authors.forename: J O
authors.initials: JO
authors.lastname: Sass
authors.forename: H
authors.initials: H
authors.lastname: Olbrich
authors.forename: V
authors.initials: V
authors.lastname: Mohr
authors.forename: C
authors.initials: C
authors.lastname: Hart
authors.forename: B
authors.initials: B
authors.lastname: Woldseth
authors.forename: S
authors.initials: S
authors.lastname: Krywawych
authors.forename: B
authors.initials: B
authors.lastname: Bjurulf
authors.forename: P K
authors.initials: PK
authors.lastname: Lakhani
authors.forename: R M
authors.initials: RM
authors.lastname: Buchdahl
authors.forename: H
authors.initials: H
authors.lastname: Omran
mesh_terms: D000107:Acetylation; D000293:Adolescent; D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D000596:Amino Acids / Q000652:urine; D001921:Brain / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics; D020739:Brain Diseases, Metabolic, Inborn / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D000596:Amino Acids; D005819:Genetic Markers; D000581:Amidohydrolases; C019672:aminoacylase I