CADmutations and uridine-responsive epileptic encephalopathy-Reference-Cited by-同舟云学术

CADmutations and uridine-responsive epileptic encephalopathy

Published:2016-12-21 Issue:2 Volume:140 Page:279-286
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Koch Johannes,Mayr Johannes A.,Alhaddad Bader,Rauscher Christian,Bierau Jörgen,Kovacs-Nagy Reka,Coene Karlien L. M.,Bader Ingrid,Holzhacker Monika,Prokisch Holger,Venselaar Hanka,Wevers Ron A.,Distelmaier Felix,Polster Tilman,Leiz Steffen,Betzler Cornelia,Strom Tim M.,Sperl Wolfgang,Meitinger Thomas,Wortmann Saskia B.,Haack Tobias B.

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/140/2/279/9987206/aww300.pdf

Reference24 articles.

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2. Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

3. Orotic aciduria and uridine monophosphate synthase: a reappraisal;Bailey;J Inherit Metab Dis,2009

4. Inborn errors of pyrimidine metabolism: clinical update and therapy;Balasubramaniam;J Inherit Metab Dis,2014

5. Resistance to Therapy in Acute Promyelocytic Leukemia

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