ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
María Belén
Pérez González
Publikationen, an denen er mitarbeitet María Belén Pérez González (11)
2022
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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
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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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
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
2017
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Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 751-752
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
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