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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540529/
https://www.ncbi.nlm.nih.gov/pubmed/32369189
http://dx.doi.org/10.1002/jimd.12247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540529/
https://www.ncbi.nlm.nih.gov/pubmed/32369189
http://dx.doi.org/10.1002/jimd.12247

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