Alfredo
Santalla Hernández
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)
2024
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Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease
Clinical Nutrition, Vol. 43, Núm. 3, pp. 692-700
2023
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Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease
Journal of Physiology, Vol. 601, Núm. 3, pp. 551-566
2022
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Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Molecular metabolism, Vol. 66, pp. 101648
2015
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The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 2, pp. 221-230
2014
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PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?
Neuromuscular Disorders, Vol. 24, Núm. 12, pp. 1079-1086