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Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
Navarro-Sastre A, Martín-Hernández E, Campos Y, Quintana E, Medina E, de Las Heras RS, Lluch M, Muñoz A, del Hoyo P, Martín R, Gort L, Briones P, Ribes A. Navarro-Sastre A, et al. Among authors: gort l. Mol Genet Metab. 2008 Jun;94(2):234-9. doi: 10.1016/j.ymgme.2008.01.012. Epub 2008 Mar 10. Mol Genet Metab. 2008. PMID: 18329934
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A. García-Villoria J, et al. Among authors: gort l. Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28. Eur J Hum Genet. 2010. PMID: 20664630 Free PMC article.
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.
Tiscornia G, Vivas EL, Matalonga L, Berniakovich I, Barragán Monasterio M, Eguizábal C, Gort L, González F, Ortiz Mellet C, García Fernández JM, Ribes A, Veiga A, Izpisua Belmonte JC. Tiscornia G, et al. Among authors: gort l. Hum Mol Genet. 2013 Feb 15;22(4):633-45. doi: 10.1093/hmg/dds471. Epub 2012 Oct 31. Hum Mol Genet. 2013. PMID: 23118351
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: gort l. Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10. Brain. 2016. PMID: 26657515 Clinical Trial.
77 results