Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

Autor: Abeling, Nico G., Duran, Marinus, Bakker, Henk D., Stroomer, Lida, Thöny, Beat, Blau, Nenad, Booij, Jan, Poll-The, Bwee Tien
Zdroj: In Molecular Genetics and Metabolism 2006 89(1):116-120
Databáze: ScienceDirect