Title : Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Pub. Date : 2006 Sep-Oct

PMID : 16650784






1 Functional Relationships(s)
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1 The diagnostic approach with CSF neurotransmitter and pterins analysis and combined phenylalanine/BH(4) loading test, and finally measurement of sepiapterin in CSF is illustrative for the diagnosis of SR deficiency. Pterins sepiapterin reductase Homo sapiens