Publicacións nas que colabora con Cristobal Colón Mejeras (3)
2024
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
2022
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, Vol. 10
2018
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Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy Case report
Medicine (United States), Vol. 97, Núm. 42