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Publications by authors named "Isaac Ferrer"

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Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Belén Pérez, Luis González Gutiérrez-Solana, Alfonso Verdú, Begoña Merinero, Patricia Yuste-Checa, Isaac Ferrer

Epilepsia· February 2013


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A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.
Patricia Alcaide, Pilar Rodriguez-Pombo, Pedro Ruiz-Sala, Isaac Ferrer, Pedro Castro

Dev Med Child Neurol· February 2010


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Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias.
Isaac Ferrer, Pedro Ruiz-Sala, Yolanda Vicente, Begoña Merinero, Celia Pérez-Cerdá

J Chromatogr B Analyt Technol Biomed Life Sci· December 2007


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