Maria M. O'callaghan
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 9 publications
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
Journal: Clinical chemistry
Published: January 19, 2024
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Journal: Clinical chemistry
Published: November 09, 2020
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
Journal: Frontiers in genetics
Published: August 04, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Journal: Journal of inherited metabolic disease
Published: April 25, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Journal: Journal of clinical medicine
Published: November 30, 2018
Clinical, etiological and therapeutic aspects of cerebral folate deficiency.
Journal: Expert review of neurotherapeutics
Published: June 21, 2015
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Journal: European journal of human genetics : EJHG
Published: November 26, 2014
Mutation loads in different tissues from six pathogenic mtDNA point mutations.
Journal: Mitochondrion
Published: November 07, 2014
Showing 1-9 of 9
Last Updated: 09/26/2026