Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)

2024

  1. Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease

    Clinical Nutrition, Vol. 43, Núm. 3, pp. 692-700

2023

  1. Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

    Journal of Physiology, Vol. 601, Núm. 3, pp. 551-566

2022

  1. Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

    Molecular metabolism, Vol. 66, pp. 101648

2015

  1. The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications

    Journal of Inherited Metabolic Disease, Vol. 38, Núm. 2, pp. 221-230

2014

  1. PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?

    Neuromuscular Disorders, Vol. 24, Núm. 12, pp. 1079-1086