ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
Hospital Universitario Virgen del Rocío
Sevilla, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (6)
2021
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2019
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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
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Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562
2017
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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1
2015
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Carnitine-acylcarnitine translocase deficiency: Experience with four cases in spain and review of the literature
JIMD Reports (Springer), pp. 11-20