Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, et al. Mol Genet Metab. 2020 Sep-Oct; 131(1-2):155-162. Epub 2020 Jun 24.