Publications by the researcher in collaboration with Rafael Artuch Iriberri (13)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

2023

  1. Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 1, pp. 66-75

2022

  1. Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 7, pp. 915-923

  2. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

    Clinical Genetics, Vol. 102, Núm. 1, pp. 40-55

2021

  1. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414

2019

  1. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751

  2. Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease

    Journal of Clinical Medicine, Vol. 8, Núm. 1

2017

  1. A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

    Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1

  2. 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

  3. 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. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

    European Journal of Human Genetics

2009

  1. Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT

    Medicina Clinica, Vol. 133, Núm. 19, pp. 745-749

  2. Secondary disorders of glycosylation in inborn errors of fructose metabolism

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1