Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings

BACKGROUND: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder with heterogeneous phenotypic spectrum resulting from disease-causing variants in the dopa decarboxylase (DDC) gene. Consensus guidelines recommend dopamine agonists, monoamine oxidase inhibitors, and other...

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Detalles Bibliográficos
Autores principales: Monteleone, Berrin, Hyland, Keith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953244/
https://www.ncbi.nlm.nih.gov/pubmed/31918669
http://dx.doi.org/10.1186/s12883-019-1596-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953244/
https://www.ncbi.nlm.nih.gov/pubmed/31918669
http://dx.doi.org/10.1186/s12883-019-1596-8

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