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Paz Briones

Spanish National Research Council
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137

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4019

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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

2017 The Journal of Pediatrics
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Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein

2017 Movement Disorders
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Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

2017 Human Mutation
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Erratum to “Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis”[Clin. Biochem. 42 (2009) 27–33]

2016 Clinical Biochemistry
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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

2016 Mitochondrion
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Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

2016 European Journal of Human Genetics
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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

2015 Orphanet Journal of Rare Diseases
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Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

2014 Phytotherapy Research
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Characterization of CoQ 10 biosynthesis in fibroblasts of patients with primary and secondary CoQ 10 deficiency

2014 Journal of Inherited Metabolic Disease
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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

2013 Journal of Inherited Metabolic Disease
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Citations (29)