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Nalin T, Perry IDS, Sitta A, Vargas CR, Saraiva-Pereira ML, Giugliani R, Blau N, Schwartz IVD. Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency. Molecular Genetics and Metabolism. 2011 Jan;104():S80–5. doi: 10.1016/j.ymgme.2011.09.019. |