Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.
Abeling
N G
NG
University of Amsterdam, Department of Clinical Chemistry, The Netherlands.
van Gennip
A H
AH
Barth
P G
PG
van Cruchten
A
A
Westra
M
M
Wijburg
F A
FA
D000592:Amino Acid Metabolism, Inborn Errors / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000652:urine; D001142:Aromatic-L-Amino-Acid Decarboxylases / Q000172:deficiency*; D001679:Biogenic Amines / Q000134:cerebrospinal fluid* / Q000652:urine; D003955:Diagnostic Tests, Routine; D005260:Female; D006801:Humans; D007223:Infant
D001679:Biogenic Amines; D001142:Aromatic-L-Amino-Acid Decarboxylases