Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

Aromatic L-amino acid decarboxylase (AADCD) deficiency is an autosomal recessive neurometabolic disorder, caused by biallelic mutations in the DDC gene, that impairs the synthesis or metabolism of neurotransmitters leading to severe motor dysfunction. The main clinical signs are oculogyric crisis, h...

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Detalles Bibliográficos
Autores principales: Kubaski, Francyne, Herbst, Zackary M., Pereira, Danilo A.A., Silva, Camilo, Chen, Christine, Hwu, Paul W.L., van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973244/
https://www.ncbi.nlm.nih.gov/pubmed/33763332
http://dx.doi.org/10.1016/j.ymgmr.2021.100744

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973244/
https://www.ncbi.nlm.nih.gov/pubmed/33763332
http://dx.doi.org/10.1016/j.ymgmr.2021.100744

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