Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

8 pages, 4 figures, 1 table. The online version of this article (https://doi.org/10.1038/s41436-020-0833-2) contains supplementary material, which is available to authorized users.

Detalles Bibliográficos
Autores: Caño-Ochoa, Francisco del, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/221056
Acceso en línea:http://hdl.handle.net/10261/221056
Access Level:acceso abierto
Palabra clave:Aspartate transcarbamoylase
Carbamoyl phosphate synthetase
Congenital disorder of glycosylation
De novo pyrimidine biosynthesis
Dihydroorotase
Descripción
Sumario:8 pages, 4 figures, 1 table. The online version of this article (https://doi.org/10.1038/s41436-020-0833-2) contains supplementary material, which is available to authorized users.

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