说明
Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G., Mustonen, A., Simola, K. O., Arslan-Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. & Koch, H. G. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis 25, 399-410 (2002).