José María
Fraga Bermúdez
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)
2014
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1
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The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings
European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531
2013
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Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis
European Journal of Paediatric Neurology, Vol. 17, Núm. 4, pp. 383-389
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Regional experience and high incidence of carnitine deficiency
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
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