Publications by the researcher in collaboration with Rafael Artuch Iriberri (4)

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

2019

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

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