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Page 1
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS. Nota B, et al. Among authors: fernandez ojeda mr. Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009. Am J Hum Genet. 2013. PMID: 23561848 Free PMC article.
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Pop A, Smith DEC, Kirby T, Walters D, Gibson KM, Mahmoudi S, van Dooren SJM, Kanhai WA, Fernandez-Ojeda MR, Wever EJM, Koster J, Waterham HR, Grob B, Roos B, Wamelink MMC, Chen J, Natesan S, Salomons GS. Pop A, et al. Among authors: fernandez ojeda mr. Mol Genet Metab. 2020 Jul;130(3):172-178. doi: 10.1016/j.ymgme.2020.04.004. Epub 2020 May 4. Mol Genet Metab. 2020. PMID: 32402538 Free article.
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS. Mendes MI, et al. Among authors: fernandez ojeda mr. Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14. Hum Mutat. 2017. PMID: 28101991 Free PMC article.
[Poor prognostic factors in patients hospitalized for COVID-19].
Blanco-Taboada AL, Fernández-Ojeda MR, Castillo-Matus MM, Galán-Azcona MD, Salinas-Gutiérrez J, Ruiz-Romero MV. Blanco-Taboada AL, et al. Among authors: fernandez ojeda mr. An Sist Sanit Navar. 2022 Jul 1;45(2):e1000. doi: 10.23938/ASSN.1000. An Sist Sanit Navar. 2022. PMID: 35786708 Free PMC article. Spanish.
[Mauriac syndrome: a liver disease that differs from steatosis of diabetes].
Hernández-Quiles C, Fernández-Ojeda MR, Solanilla Rodríguez R, Escudero Severin C. Hernández-Quiles C, et al. Among authors: fernandez ojeda mr. Rev Clin Esp (Barc). 2013 Apr;213(3):169-70. doi: 10.1016/j.rce.2012.10.003. Epub 2012 Dec 20. Rev Clin Esp (Barc). 2013. PMID: 23261838 Spanish. No abstract available.