Commentary: What degree of hyperphenylalaninaemia requires treatment?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-012-9505-y
Reference21 articles.
1. Albrecht J, Garbade SF, Burgard P (2009) Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci Biobehav Rev 33:414–421
2. Anastasoaie V, Kurzius L, Forbes P, Waisbren S (2008) Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab 95:17–20
3. Blau N, Bélanger-Quintana A, Demirkol M et al (2010) Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab 99:109–115
4. Burgard P, Bremer HJ, Bührdel P et al (1999) Rationale for the German recommendations for phenylalanine control in phenylketonuria. Eur J Pediatr 158:46–54
5. Costello PM, Beasley MG, Tillotson SL, Smith I (1994) Intelligence in mild atypical phenylketonuria. Eur J Pediatr 153:260–263
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1. In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening;Children;2023-11-28
2. Different Viewpoints: International Perspectives On Newborn Screening/Različita Gledišta: Međunarodne Perspektive U Vezi Sa Testiranjem Novorođenčadi;Journal of Medical Biochemistry;2014-10-08
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