Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing

One of the most promising outcomes of whole-exome sequencing (WES) is the alteration of medical management following an accurate diagnosis in patients with previously unresolved disorders. Although case reports of targeted therapies resulting from WES have been published, there are few reports with...

Descripción completa

Detalles Bibliográficos
Autores principales: Shashi, Vandana, Petrovski, Slavé, Schoch, Kelly, 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:
Follow-up Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850881/
https://www.ncbi.nlm.nih.gov/pubmed/27148562
http://dx.doi.org/10.1101/mcs.a000265

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850881/
https://www.ncbi.nlm.nih.gov/pubmed/27148562
http://dx.doi.org/10.1101/mcs.a000265

Ejemplares similares