Publications by the researcher in collaboration with Ángels García Cazorla (12)

2024

  1. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434

  2. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

2020

  1. Clinical presentation and proteomic signature of patients with TANGO2 mutations

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308

  2. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

    Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467

2019

  1. Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease

    Journal of Clinical Medicine, Vol. 8, Núm. 1

  2. Plasma coenzyme Q10 status is impaired in selected genetic conditions

    Scientific Reports, Vol. 9, Núm. 1

2016

  1. A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    Scientific Reports, Vol. 6, Núm. 1

  2. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion, Vol. 30, pp. 51-58

2013

  1. Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion, Vol. 13, Núm. 4, pp. 337-341

2009

  1. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

    Clinical Biochemistry, Vol. 42, Núm. 7-8, pp. 742-745

2008

  1. Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

    Clinical Biochemistry, Vol. 41, Núm. 9, pp. 697-700

2005

  1. Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders

    BioFactors