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J.D. Ortigoza Escobar
J.D. Ortigoza Escobar
University of Barcelona
SLC19A3
Thiamine
Mutation
Physical therapy
Encephalopathy
3
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OP7 – 2635: Does SLC19A3 expression analysis predict thiamine responsiveness?
2015
European Journal of Paediatric Neurology
J.D. Ortigoza Escobar
C. Jou
A. Oyarzabal
R. Blanco Soto
J. Marquez Pereira
I. Ferrer
P. Rodriguez-Pombo
Belén Pérez-Dueñas
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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
2015
European Journal of Paediatric Neurology
J.D. Ortigoza Escobar
A. Oyarzabal
Raquel Montero
Rafael Artuch
Laura Gort
P. Briones
B. Pérez González
P. Rodriguez-Pombo
B. Pérez-Dueñas
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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
2015
European Journal of Paediatric Neurology
J.D. Ortigoza Escobar
Marta Molero-Luis
A. Arias
N. Darin
Mercedes Casado
Mercedes Serrano
Mireia Tondo
J.A. Mayr
Antonia Ribes
Rafael Artuch
Belén Pérez-Dueñas
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