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Fiege B, Bonafé L, Ballhausen D, Baumgartner M, Thöny B, Meili D, Fiori L, Giovannini M, Blau N. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol Genet Metab. 2005 Dec;86 Suppl 1():S91–5. doi: 10.1016/j.ymgme.2005.09.014. PMID: 16290003. |