Publicacións nas que colabora con Rafael Artuch Iriberri (12)

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