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...

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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2015
Konular:
Follow-up Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4850881/
https://ncbi.nlm.nih.gov/pubmed/27148562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000265
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