ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
![Foto de ELENA](/img/nophoto.png)
![Foto de Hospital Virgen de la Arrixaca](/img/noimage_org.png)
Hospital Virgen de la Arrixaca
Murcia, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital Virgen de la Arrixaca (7)
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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Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798
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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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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1