Assessment of Tetrahydrobiopterin (BH4 ) Responsiveness in Phenylketonuria von Fiege, Betina, MD, Blau, Nenad, PhD

Volltext

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration von Fiege, Betina, Ballhausen, Diana, Kierat, Lucja, Leimbacher, Walter, Goriounov, Dimitri, Schircks, Bernhard, Thöny, Beat, Blau, Nenad

Volltext

Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients von Fiori, Laura, Fiege, Betina, Riva, Enrica, Giovannini, Marcello

Volltext

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study von Fiege, Betina, Bonafé, Luisa, Ballhausen, Diana, Baumgartner, Matthias, Thöny, Beat, Meili, David, Fiori, Laura, Giovannini, Marcello, Blau, Nenad

Volltext

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper von Zurflüh, Marcel R., Giovannini, Marcello, Fiori, Laura, Fiege, Betina, Gokdemir, Yasemin, Baykal, Tolunay, Kierat, Lucja, Gärtner, Konrad H., Thöny, Beat, Blau, Nenad

Volltext

Incidence of BH 4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients von Fiori, Laura, Fiege, Betina, Riva, Enrica, Giovannini, Marcello

Volltext