Authors:
Bonafe, L
Thony, B
Penzien, JM
Czarnecki, B
Blau, N
Citation: L. Bonafe et al., Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia, AM J HU GEN, 69(2), 2001, pp. 269-277
Authors:
Blau, N
Thony, B
Renneberg, A
Penzien, JM
Hyland, K
Hoffmann, GF
Citation: N. Blau et al., Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading, J INH MET D, 22(3), 1999, pp. 216-220