Publications by authors named "Patricia Alcaide"

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Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates.
Karol M Córdoba, Daniel Jericó, Lei Jiang, María Collantes, Manuel Alegre, Patricia Alcaide

Gut· January 2025

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Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, Natalia Castejón-Fernández, Rosa Navarrete, Patricia Alcaide

Int J Mol Sci· October 2022

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Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.
Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernández-Felix, Pedro Ruiz-Sala, Patricia Alcaide

Antioxidants (Basel)· August 2022

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Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Patricia Alcaide, Isaac Ferrer-López, Leticia Gutierrez, Fatima Leal, Elena Martín-Hernández

J Clin Med· May 2022

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Technical Aspects of Coenzyme Q Analysis: Validation of a New HPLC-ED Method.
Abraham J Paredes-Fuentes, Clara Oliva, Raquel Montero, Patricia Alcaide, George J G Ruijter

Antioxidants (Basel)· March 2022

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Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Francisco Arrieta, Victor Quintero, Patricia Alcaide

Orphanet J Rare Dis· May 2021

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Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
Angels García-Cazorla, Alfonso Oyarzabal, Joana Fort, Concepción Robles, Esperanza Castejón, Patricia Alcaide

Hum Mutat· April 2014

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Defining the pathogenicity of creatine deficiency syndrome.
Patricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, Eva Richard, Rosa Navarrete

Hum Mutat· March 2011

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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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[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].
Angela Sempere, Carmen Fons, Angela Arias, Pilar Rodríguez-Pombo, Begoña Merinero, Patricia Alcaide

Med Clin (Barc)· November 2009

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