Pedro Ruiz-Sala

8PUBLICATIONS
35CO-AUTHORS
AutoimmunityMedical biochemistry - lipidsMedical biochemistry - proteins and peptides (incl. medical proteomics)HaematologyPacific Peoples medicine and treatments
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Publications (8)

|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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