Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

Aromatic L-amino acid decarboxylase (AADC), a vitamin B6-requiring enzyme that converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Deficiency of this enzyme results in developmental delay, muscular hypotonia, dystonia, involuntary movements, autonomic dysfunction, and oculogyric crises...

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Detalles Bibliográficos
Autores principales: Gücüyener, Kıvılcım, Kasapkara, Çiğdem Seher, Tümer, Leyla, Verbeek, Marcel M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090859/
https://www.ncbi.nlm.nih.gov/pubmed/25024584
http://dx.doi.org/10.4103/0972-2327.132652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090859/
https://www.ncbi.nlm.nih.gov/pubmed/25024584
http://dx.doi.org/10.4103/0972-2327.132652

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