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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation.

We administered tetrahydrobiopterin (BH4) to 4 patients with progressive dystonia with diurnal variation (PDDV). One patient improved clinically. Deficient CSF concentrations of HVA and 5-HIAA were unchanged despite marked elevation of CSF biopterin concentration. Variable effectiveness of BH4 in PDDV may reflect reduced number or function of biopterin-metabolizing neurons or variable entry of BH4 into these neurons.[1]

References

  1. Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation. Fink, J.K., Ravin, P., Argoff, C.E., Levine, R.A., Brady, R.O., Hallett, M., Barton, N.W. Neurology (1989) [Pubmed]
 
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