Molecular-Genetic Study of Phenylketonuria in Patients from Georgia
Author:
Publisher
Pleiades Publishing Ltd
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1134/S1022795419080064.pdf
Reference19 articles.
1. Blau, N., Shen, N., and Carducci, C., Molecular genetics and diagnosis of phenylketonuria: state of the art, Expert. Rev. Mol. Diagn., 2014, vol. 14, no. 6, pp. 655—671. https://doi.org/10.1586/14737159.2014.923760
2. Economou-Petersen, E., Henriksen, K.F., Guldberg, P., et al., Molecular basis for nonphenylketonuria hyperphenylalaninemia, Genomics, 1992, vol. 14, no. 1, pp. 1—5.
3. van Spronsen, F.J., Himmelreich, N., Rufenacht, V., et al., Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability, J. Med. Genet., 2017. https://doi.org/10.1136/jmedgenet-2017-104875
4. de Sain-van der Velden, M.G.M., Kuper, W.F.E., Kuijper, M.A., et al., Beneficial effect of BH4 treatment in a 15-year-old boy with biallelic mutations in DNAJC12, JIMD Rep., 2018. https://doi.org/10.1007/8904_2017_86
5. Kure, S., Hou, D.C., Ohura, T., et al., Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, J. Pediatr., 1999, vol. 135, no. 3, pp. 375—378.
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