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Article

Dopamine beta-hydroxylase deficiency.

Orphanet journal of rare diseases - 30 Mar 2006

Senard Jean-Michel, Rouet Philippe

Abstract excerpt

Dopamine beta-hydroxylase (DbetaH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DbetaH deficiency is unknown. Only a limited number of cases with this disease have been reported. DbetaH deficiency is mainly characterized by cardiovascular disorders and...

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Identifiers

PMID: 16722595
DOI: 10.1186/1750-1172-1-7
PMCID: PMC1459119

Genes

DBH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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