Neurological findings in aminoacylase 1 deficiency.
Sass
J O
JO
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
Olbrich
H
H
Mohr
V
V
Hart
C
C
Woldseth
B
B
Krywawych
S
S
Bjurulf
B
B
Lakhani
P K
PK
Buchdahl
R M
RM
Omran
H
H
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*
D000596:Amino Acids; D005819:Genetic Markers; D000581:Amidohydrolases; C019672:aminoacylase I