Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417-1427.
[2]
Scriver CR, Kaufman S. Hyperphenylalaninemias: phenylalanine hydroxylase deficiency. In: Valle D, Beaudet AL, Vogelstein B, et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2014.
[3]
Opladen T, Hoffmann GF, Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis. 2012;35(6):963-970.
[4]
Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol. 2003;54(Suppl 6):S32-S45.
[5]
Scott AI. Pteridines. In: Blau N, Duran M, Gibson KM, eds. Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer; 2008:365-381.
[6]
Mitchell GA, Grompe M, Lambert M, Tanguay RM. Hypertyrosinemia. In: Valle D, Beaudet AL, Vogelstein B, et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2014.
[7]
Sniderman King L. Disorders of aromatic amino acids. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. New York: McGraw-Hill; 2017:185-196.
[8]
van Spronsen FJ, van Rijn M, Dorghi B, et al. Do we still think phenylketonuria is dietary? J Inherit Metab Dis. 2017;40(4):531-538.
[9]
Harding CO, Gillingham MB. Newborn screening for phenylketonuria. Pediatr Ann. 2018;47(12):e504-e510.
[10]
Waisbren SE, Albers S, Amato S, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress: a randomized controlled trial. Pediatrics. 2006;118(1):251-261.