Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C.
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Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32.
PMID:22642880
Developing splice-switching oligonucleotides for urea cycle disorder using an integrated diagnostic and therapeutic platform.
Ow JR, Imagawa E, Chen F, Cher WY, Chan SYT, Gurrampati RR, Ramadass V, Loke MF, Tabaglio T, Nishida H, Tsunogai T, Yazaki M, Ch'ng GS, Lakshmanan M, Lee SS, Ying JY, Guccione E, Oishi K, Wee KB.
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PMID:39978599
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.
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Biochem Biophys Res Commun. 2017 May 6;486(3):613-619. doi: 10.1016/j.bbrc.2017.03.037. Epub 2017 Mar 14.
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