Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a possible autoimmune condition, analysis of the child's exo...

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Detalles Bibliográficos
Autores principales: Petrovski, Slavé, Shashi, Vandana, Petrou, Steven, Schoch, Kelly, McSweeney, Keisha Melodi, Dhindsa, Ryan S., Krueger, Brian, Crimian, Rebecca, Case, Laura E., Khalid, Roha, El-Dairi, Maysantoine A., Jiang, Yong-Hui, Mikati, Mohamad A., Goldstein, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2015
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850896/
https://www.ncbi.nlm.nih.gov/pubmed/27148561
http://dx.doi.org/10.1101/mcs.a000257

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