Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell metabolism. Since a considerable number of such diso...

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Detalles Bibliográficos
Autores principales: Wajner, Moacir, Sitta, Angela, Kayser, Aline, Deon, Marion, Groehs, Ana C., Coelho, Daniella M., Vargas, Carmen R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687352/
https://www.ncbi.nlm.nih.gov/pubmed/30985856
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687352/
https://www.ncbi.nlm.nih.gov/pubmed/30985856
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0105

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