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Symptoms and impacts of aromatic l-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function

BACKGROUND: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological disorder associated with a range of symptoms and functional impairments. The aim of this study was to describe the experience of AADC deficiency across five different motor milestone health states. METHODS: Qual...

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Detalles Bibliográficos
Autores principales: Williams, Kate, Skrobanski, Hanna, Buesch, Katharina, Acaster, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8935094/
https://www.ncbi.nlm.nih.gov/pubmed/35313922
http://dx.doi.org/10.1186/s13023-022-02274-0