Pedro Sala-Ruiz

Madrid, MD 28049, Spain

Last Updated: 09/26/2026

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Found 27 publications

Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study.

Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study.

Journal: International journal of molecular sciences

Published: June 19, 2026

Improving the performance of biochemical genetic testing through external quality assessment.

Improving the performance of biochemical genetic testing through external quality assessment.

Journal: Clinical chemistry and laboratory medicine

Published: May 22, 2026

Acquired multiple acyl-CoA dehydrogenase deficiency (MADD) provoked by sertraline: an emerging and treatable disorder.

Acquired multiple acyl-CoA dehydrogenase deficiency (MADD) provoked by sertraline: an emerging and treatable disorder.

Journal: Practical neurology

Published: January 19, 2026

The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

Journal: International journal of molecular sciences

Published: June 22, 2024

Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.

Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.

Journal: Clinical chemistry and laboratory medicine

Published: November 14, 2023

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.

Journal: International journal of molecular sciences

Published: December 31, 2022

Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis.

Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: December 14, 2022

Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.

Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.

Journal: Antioxidants (Basel, Switzerland)

Published: July 29, 2022

Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.

Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 05, 2022

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.

Journal: Blood

Published: May 19, 2022

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

Journal: Journal of clinical medicine

Published: March 21, 2022

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.

Journal: Orphanet journal of rare diseases

Published: March 03, 2022

Showing 1-12 of 27

Last Updated: 09/26/2026