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Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Abstract Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to a homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis of the biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had...

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Principais autores: Helio van der Linden Jr., Christiane Cobas, Andre Felipe Pinto Duarte, Marcelo Rodrigues Masruha
Format: Artigo
Sprog:Inglês
Udgivet: Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2023-09-01
Serier:Journal of Inborn Errors of Metabolism and Screening
Fag:
Aromatic L-amino acid decarboxylase deficiency
DDC gene
Oculogyric crises
Oromandibular dystonia
Online adgang:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100305&tlng=en
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