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Horvath, G A; Stockler-Ipsiroglu, S G; Salvarinova-Zivkovic, R; Lillquist, Y P; Connolly, M; Hyland, K; Blau, N; Rupar, T; Waters, P J (2008). Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms. Molecular Genetics and Metabolism, 94(1):127-131.