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Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency.
Gougeard N, Sancho-Vaello E, Fernández-Murga ML, Martínez-Sinisterra B, Loukili-Hassani B, Häberle J, Marco-Marín C, Rubio V. Gougeard N, et al. Among authors: fernandez murga ml. J Inherit Metab Dis. 2024 Nov;47(6):1194-1212. doi: 10.1002/jimd.12747. Epub 2024 May 13. J Inherit Metab Dis. 2024. PMID: 38740568 Free PMC article.
Impact of the 21-Gene Assay in Patients with High-Clinical Risk ER-Positive and HER2-Negative Early Breast Cancer: Results of the KARMA Dx Study.
Llombart-Cussac A, Anton-Torres A, Rojas B, Andrés R, Martinez N, Rodríguez CA, Marin S, Puértolas T, González AF, Fernández-Murga ML, Hagen C, Ruiz-Borrego M. Llombart-Cussac A, et al. Among authors: fernandez murga ml. Cancers (Basel). 2023 Feb 28;15(5):1529. doi: 10.3390/cancers15051529. Cancers (Basel). 2023. PMID: 36900321 Free PMC article.
Impact of SARS-CoV-2 Infection on Patients with Cancer: Retrospective and Transversal Studies in Spanish Population.
Garde-Noguera J, Fernández-Murga ML, Giner-Bosch V, Dominguez-Márquez V, Sánchez JG, Soler-Cataluña JJ, López Chuliá F, Honrubia B, Piera N, Llombart-Cussac A. Garde-Noguera J, et al. Among authors: fernandez murga ml. Cancers (Basel). 2020 Nov 25;12(12):3513. doi: 10.3390/cancers12123513. Cancers (Basel). 2020. PMID: 33255856 Free PMC article.
Metabolomics profiling reveals new aspects of dolichol biosynthesis in Plasmodium falciparum.
Zimbres FM, Valenciano AL, Merino EF, Florentin A, Holderman NR, He G, Gawarecka K, Skorupinska-Tudek K, Fernández-Murga ML, Swiezewska E, Wang X, Muralidharan V, Cassera MB. Zimbres FM, et al. Among authors: fernandez murga ml. Sci Rep. 2020 Aug 6;10(1):13264. doi: 10.1038/s41598-020-70246-0. Sci Rep. 2020. PMID: 32764679 Free PMC article.
33 results