Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria

Author:

Aldámiz-Echevarría Luis,Llarena Marta,Bueno María A,Dalmau Jaime,Vitoria Isidro,Fernández-Marmiesse Ana,Andrade Fernando,Blasco Javier,Alcalde Carlos,Gil David,García María C,González-Lamuño Domingo,Ruiz Mónica,Ruiz María A,Peña-Quintana Luis,González David,Sánchez-Valverde Felix,Desviat Lourdes R,Pérez Belen,Couce María L

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference46 articles.

1. Walter, J. H., Lachmann, R. H., Burgard, P. in Inborn Metabolic Diseases. Diagnosis and Treatment 5th edn (eds Saudubray, J.-M., van den Berghe, G. & Walter, J. H.) 251–264 (Springer-Verlag, Berlin Heidelberg, Germany, 2012).

2. Donlon, J ., Sarkissian, C ., Levy, H . & Scriver, C. R . in The Online Metabolic and Molecular Bases of Inherited Disease (eds Valle, D., Beaudet, A. L., Vogelstein, B., Kinzler, K. W., Antonarakis, S. E., Ballabio, A. et al.) (McGraw-Hill, New York, NY, USA, 2014).

3. Camp, K. M., Parisi, M. A., Acosta, P. B., Berry, G. T., Bilder, D. A., Blau, N. et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol. Genet. Metab. 112, 87–122 (2014).

4. Gassió, R., Artuch, R., Vilaseca, M. A., Fusté, E., Boix, C., Sans, A. et al. Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev. Med. Child. Neurol. 47, 443–448 (2005).

5. Viau, K. S., Wengreen, H. J., Ernst, S. L., Cantor, N. L., Furtado, L. V. & Longo, N. Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria. J. Inherit. Metab. Dis. 34, 963–971 (2011).

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