AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, and autonomic symptoms. This retrospective s...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Pearson, Toni S., Gilbert, Laura, Opladen, Thomas, Garcia‐Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K. H., Sykut‐Cegielska, Jolanta, Pons, Roser, Mercimek‐Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A., Steel, Dora, Manti, Filippo, Meeks, Kathleen D., Jeltsch, Kathrin, Flint, Lisa
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7540529/
https://ncbi.nlm.nih.gov/pubmed/32369189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12247
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