Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review-Reference-Cited by-同舟云学术

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Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review

Published:2020-11-29 Issue:1 Volume:8 Page:284-287
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann. Clin. Transl. Neurol.

Author:

Frederick Aliya¹²^ORCID,Sherer Kimberly²³,Nguyen Linda¹²,Ali Shawn⁴,Garg Anupam⁴,Haas Richard¹²,Sahagian Michelle¹²,Bui Jonathan¹²

Affiliation:

1. Department of Neurosciences University of California San Diego San Diego CaliforniaUSA

2. Rady Children’s Hospital San Diego CaliforniaUSA

3. Department of Pediatrics University of California San Diego San Diego CaliforniaUSA

4. University of California San Diego School of Medicine San Diego CaliforniaUSA

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51257

Reference17 articles.

1. CADmutations and uridine-responsive epileptic encephalopathy

2. A patient with CAD deficiency responsive to uridine and literature review;Zhou L;Front Neurol,2020

3. Online Mendelian Inheritance in Man OMIM [database on the Internet]. John Hopkins University. Available from:https://omim.org/entry/114010

4. Online Mendelian Inheritance in Man OMIM [database on the Internet]. John Hopkins University. Available from:https://omim.org/entry/258900

5. Uridine triacetate;Cada DJ;Hosp Pharm,2016

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5. Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature;BMC Pediatrics;2024-03-07

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