ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublications in collaboration with researchers from 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