Fisiología, Anatomía y Biología Celular
Department
Ángels
García Cazorla
Publications by the researcher in collaboration with Ángels García Cazorla (13)
2024
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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
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2020
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Clinical presentation and proteomic signature of patients with TANGO2 mutations
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308
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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency
Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467
2019
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Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease
Journal of Clinical Medicine, Vol. 8, Núm. 1
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Plasma coenzyme Q10 status is impaired in selected genetic conditions
Scientific Reports, Vol. 9, Núm. 1
2016
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A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities
Scientific Reports, Vol. 6, Núm. 1
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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
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
2013
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Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
Mitochondrion, Vol. 13, Núm. 4, pp. 337-341
2009
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Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report
Clinical Biochemistry, Vol. 42, Núm. 7-8, pp. 742-745
2008
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Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes
Clinical Biochemistry, Vol. 41, Núm. 9, pp. 697-700