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Article

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

Neurology - 12 Oct 1999

Swoboda K J, Hyland K, Goldstein D S, Kuban K C, Arnold L A, Holmes C S, Levy H L

Abstract excerpt

OBJECTIVES: To elucidate the phenotype in aromatic L-amino acid decarboxylase (AADC) deficiency, a rare autosomal recessive disorder of neurotransmitter synthesis, and report preliminary treatment observations with directed therapy of the associated neurotransmitter deficiencies. BACKGROUND: AADC is a required enzyme in dopamine, norepinephrine, epinephrine, and serotonin biosynthesis. Five patients have been...

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Identifiers

PMID: 10522874
DOI: 10.1212/wnl.53.6.1205

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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