Publicaciones en las que colabora con 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

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. Free-thiamine is a potential biomarker of Thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome

    Brain, Vol. 139, Núm. 1, pp. 31-38

  3. 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