ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (10)
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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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
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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
Nutrients, Vol. 14, Núm. 13
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
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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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
2018
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Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers
JIMD Reports (Springer), pp. 63-74
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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
2012
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Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature
British Journal of Dermatology, Vol. 166, Núm. 4, pp. 830-838