ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
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Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias
Las Palmas de Gran Canaria, EspañaPublicacions en col·laboració amb investigadors/es de Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias (5)
2022
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Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
International Journal of Molecular Sciences, Vol. 23, Núm. 21
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
2019
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39
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Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
Journal of Clinical Medicine, Vol. 8, Núm. 11