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PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. Quintana E, et al. Among authors: lluch m. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9. J Inherit Metab Dis. 2009. PMID: 19924563
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group. Macías-Vidal J, et al. Among authors: lluch m. Clin Genet. 2011 Jul;80(1):39-49. doi: 10.1111/j.1399-0004.2010.01504.x. Epub 2010 Jul 6. Clin Genet. 2011. PMID: 20718790
Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
Vilaseca MA, Kobayashi K, Briones P, Lambruschini N, Campistol J, Tabata A, Alomar A, Rodès M, Lluch M, Saheki T. Vilaseca MA, et al. Among authors: lluch m. Mol Genet Metab. 2001 Nov;74(3):396-8. doi: 10.1006/mgme.2001.3221. Mol Genet Metab. 2001. PMID: 11708871
145 results