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References

These sources were used to develop the Genetics Home Reference condition summary on dopamine beta-hydroxylase deficiency.

Cubells JF, Zabetian CP. Human genetics of plasma dopamine beta-hydroxylase activity: applications to research in psychiatry and neurology. Psychopharmacology (Berl). 2004 Aug;174(4):463-76. Epub 2004 Apr 16. Review. PubMed citation
Gene Review: Dopamine Beta-Hydroxylase Deficiency
Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS. Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. Am J Med Genet. 2002 Mar 1;108(2):140-7. PubMed citation
Robertson D. The pathophysiology and diagnosis of orthostatic hypotension. Clin Auton Res. 2008 Mar;18 Suppl 1:2-7. Epub 2008 Mar 27. Review. PubMed citation
Senard JM, Rouet P. Dopamine beta-hydroxylase deficiency. Orphanet J Rare Dis. 2006 Mar 30;1:7. Review. PubMed citation
Vincent S, Robertson D. The broader view: catecholamine abnormalities. Clin Auton Res. 2002 May;12 Suppl 1:I44-9. PubMed citation

Reviewed: September 2008

Published: May 21, 2012