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List of works by Paz Briones

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

scientific article published on November 2011

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

scientific article

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency

scientific article published on 18 June 2013

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

scientific article

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

scientific article

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

scientific article

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

scientific article published on 20 November 2013

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue ⬇️

scientific article published on June 22, 2011

Role of creatine as biomarker of mitochondrial diseases

scientific article

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

scientific article published on 31 December 2008

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis

scientific article

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency ⬇️

scientific article published on July 28, 2010

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