Pedro Ruiz-Sala
8PUBLICATIONS
35CO-AUTHORS

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Publications (8)
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|Aug 29, 2024
The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.Raquel Barbero-Herranz, María Garriga-García, Ana Moreno-Blanco
|Feb 11, 2023
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez
|Nov 17, 2022
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.Ana Marín-Quílez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo
|Aug 26, 2022
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernández-Felix
|May 28, 2022
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
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Frequent Collaborators
4 joint publications
Sinziana Stanescu
3 joint publications
Patricia Alcaide
2 joint publications
Belén Pérez
2 joint publications
Amaya Belanger-Quintana
1 joint publications
Luis Peña-Quintana
1 joint publications
Abraham J Paredes-Fuentes
1 joint publications
Rafael Artuch
1 joint publications
Pilar Quijada-Fraile
1 joint publications
Dolores Rausell
1 joint publications
María Unceta