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Autosomal recessive DOPA responsive dystonia
- ... J, Poll-The BT. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab. 2006 Sep-Oct;89(1- ...
- ... BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain. ... GTP-CH1 deficiency: identification and functional characterization of ...