Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting with Neurotransmitter Deficiency without Hyperphenylalaninemia

Elzaouk, L., Osmani, H., Leimbacher, W., Romstad, A., Friedman, J., Maccollin, M., … Blau, N. (2002). Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting with Neurotransmitter Deficiency without Hyperphenylalaninemia. In Chemistry and Biology of Pteridines and Folates (pp. 277–284). Springer US. https://doi.org/10.1007/978-1-4615-0945-5_46