ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
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Universidad Autónoma de Madrid
Madrid, EspañaPublicacions en col·laboració amb investigadors/es de Universidad Autónoma de Madrid (11)
2022
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, Vol. 63, Núm. 2, pp. 146-161
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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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Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases
Journal of Clinical Medicine, Vol. 11, Núm. 10
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Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
Journal of Pediatric Endocrinology and Metabolism, Vol. 35, Núm. 10, pp. 1223-1231
2020
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Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid
Revista espanola de salud publica, Vol. 94
2015
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Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency
Pediatrics, Vol. 136, Núm. 2, pp. e424-e432
2014
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Orphanet journal of rare diseases, Vol. 9, pp. 187
2012
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Nutritional and pharmacological management during chemotherapy in a patient with propionic acidaemia and rhabdomyosarcoma botryoides
JIMD Reports (Springer), pp. 73-78
2011
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Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias
Medicina Clinica, Vol. 137, Núm. 11, pp. 500-503
2008
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Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa
Anales de Pediatria, Vol. 69, Núm. 4, pp. 358-365
2006
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Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
Journal of inherited metabolic disease, Vol. 29, Núm. 5, pp. 685