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Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism

Many inborn errors of metabolism and genetic disorders affect the brain. The brain biochemistry may differ from that in the periphery and is not accessible by simple blood and urine sampling. Therefore, neuroimaging has proven to be a valuable tool to not only evaluate the brain structure, but also...

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Detalles Bibliográficos
Autores principales: Gropman, Andrea L., Anderson, Afrouz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9075742/
https://www.ncbi.nlm.nih.gov/pubmed/35529470
http://dx.doi.org/10.20517/jtgg.2020.09