Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening-Reference-Cited by-同舟云学术

Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening

Published:2017 Issue: Volume: Page:39-45
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Lilleväli Hardo,Reinson Karit,Muru Kai,Simenson Kristi,Murumets Ülle,Möls Tõnu,Õunap Katrin

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2017_61

Reference25 articles.

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2. Baranovskaya S, Shevtsov S, Maksimova S, Kuzmin A, Schwartz E (1996) The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg. J Inherit Metab Dis 19:705

3. Bayat A, Yasmeen S, Lund A, Nielsen JB, Moller LB (2016) Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark. Clin Genet 90:247–251

4. Bik-Multanowski M, Kaluzny L, Mozrzymas R et al (2013) Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. Acta Biochim Pol 60:613–616

5. Blau N, van Spronsen FJ, Levy HL (2010) Phenylketonuria. Lancet 376:1417–1427

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