ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
![Foto de María Luz](/img/nophoto.png)
María Luz
Couce Pico
Publications by the researcher in collaboration with María Luz Couce Pico (12)
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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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
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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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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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39
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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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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
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Protocolo de diagnóstico y tratamiento de las deficiencias de la β-oxidación mitocondrial de los ácidos grasos
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 43-66
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
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