Search Results - "Escobar, J.D. Ortigoza"

OP7 – 2635: Does SLC19A3 expression analysis predict thiamine responsiveness? by Escobar, J.D. Ortigoza, Jou, C, Oyarzabal, A, Soto, R. Blanco, Pereira, J. Marquez, Ferrer, I, Rodriguez-Pombo, P, Pérez-Dueñas, B

“…Objectives Thiamine transporter-2 deficiency due to SLC19A3 defect is a potentially treatable cause of Leigh syndrome. Our aim was to analyze SLC19A3…”
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PP03.2 – 2683: Next generation sequencing allows the identification of NDUFS4 defect in a patient with fatal early Leigh syndrome and deficiencies in pyruvate dehydrogenase and multiple respiratory chain complexes by Escobar, J.D. Ortigoza, Oyarzabal, A, Montero, R, Artuch, R, Gort, L, Briones, P, González, B. Pérez, Rodriguez-Pombo, P, Dueñas, B. Pérez

“…Objective Respiratory chain complex (RCC) I is the second most common biochemical abnormality causing Leigh syndrome (LS), an early-onset neurodegenerative…”
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OP6 – 2631: Decreased free-thiamine in cerebro spinal fluid and fibroblasts is a sensitive marker of thiamine transporter 2 deficiency in Leigh syndrome patients by Escobar, J.D. Ortigoza, Molero-Luis, M, Arias, A, Darin, N, Casado, M, Serrano, M, Tondo, M, Mayr, J.A, Ribes, A, Artuch, R, Pérez-Dueñas, B

“…Objectives Thiamine transporter-2 (hTHTR2) deficiency due to SLC19A3 mutations is a potentially reversible cause of Leigh syndrome for which no biochemical…”
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