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Klaus, V; Vermeulen, T; Minassian, B; Israelian, N; Engel, K; Lund, A M; Roebrock, K; Christensen, E; Häberle, J (2009). Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? Clinical Genetics, 76(3):263-269.
Vermeulen, T; Marquardt, T; Häberle, J (2009). Pseudodeficiency of glutamine in infant liver disease. Amino Acids, 37(2):435-437.