ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
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Instituto de Salud Carlos III
Madrid, EspañaInstituto de Salud Carlos III -ko ikertzaileekin lankidetzan egindako argitalpenak (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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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303
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
2012
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Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA Leu(CUN) gene
Mitochondrion, Vol. 12, Núm. 2, pp. 288-293
2011
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Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients
Mitochondrion, Vol. 11, Núm. 6, pp. 867-870
2010
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Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
Mitochondrion, Vol. 10, Núm. 5, pp. 429-432