Progress and challenges in development of new therapies for urea cycle disorders
Author:
Affiliation:
1. Telethon Institute of Genetics and Medicine, Pozzuoli, Italy
2. Rare Disease Institute, Children's National Health System, Washington, DC, USA
3. Department of Translational Medicine, Federico II University of Naples, Naples, Italy
Abstract
Funder
Rashid Family Fund
Fondazione Telethon
H2020 European Research Council
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddz140/29099312/ddz140.pdf
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3. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate;Caldovic;J. Pediatr.,2004
4. Suggested guidelines for the diagnosis and management of urea cycle disorders;Haberle;Orphanet J. Rare Dis.,2012
5. Liposome-supported peritoneal dialysis for detoxification of drugs and endogenous metabolites;Forster;Sci. Transl. Med.,2014
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