Author:
Bueno María A,González-Lamuño Domingo,Delgado-Pecellín Carmen,Aldámiz-Echevarría Luís,Pérez Belén,Desviat Lourdes R,Couce María L
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference32 articles.
1. Mathias, D. & Bickel, H. Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West Germany. Eur. J. Pediatr. 145, 310–312 (1986).
2. Delgado Pellecín, C., García-Valdecasas, M. S., Bueno Delgado, M. A., Pérez-Cerdá, C. & Merinero Cortés, B. Experiencia del cribado neonatal ampliado en el Hospital Universitario Virgen del Rocío. Acta. Pediatr. Esp. 69, 89 (2011).
3. Mitchell, J. J., Trakadis, Y. J. & Scriver, C. R. Phenylalanine hydroxylase deficiency. Genet. Med. 13, 697–707 (2011).
4. Kozak, L., Hrabincova, E., Kintr, J., Horky, O., Zapletalova, P., Blahakova, I. et al. Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement. Mol. Genet. Metab. 89, 300–309 (2006).
5. Desviat, L. R., Pérez, B. & Ugarte, M. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis. Clin. Chim. Acta. 373, 164–167 (2006).
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