Publications by the researcher in collaboration with Rafael Artuch Iriberri (9)

2017

  1. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)

    Journal of Inherited Metabolic Disease

  2. Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 709-713

2016

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

    Mitochondrion, Vol. 30, pp. 51-58

2014

  1. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    Orphanet journal of rare diseases, Vol. 9, pp. 217

  2. Las enfermedades de la fosforilación oxidativa (OXPHOS): sintomatología y diagnóstico clínico

    Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias (Ergon), pp. 803-836

  3. Tratamiento de las enfermedades mitocondriales

    Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias (Ergon), pp. 837-847

2011

  1. Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion, Vol. 11, Núm. 6, pp. 867-870

2010

  1. Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

    Mitochondrion, Vol. 10, Núm. 5, pp. 429-432

2008

  1. Mitochondrial diseases associated with cerebral folate deficiency

    Neurology, Vol. 70, Núm. 16, pp. 1360-1362