Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-012-9458-1
Reference43 articles.
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2. Bernegger C, Blau N (2002) High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol Genet Metab 77:304–313
3. Bik-Multanowski M, Didycz B, Mozrzymas R et al (2008) Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J Inherit Metab Dis 31(Suppl 2):S415–418
4. Bilginsoy C, Waitzman N, Leonard CO, Ernst SL (2005) Living with phenylketonuria: perspectives of patients and their families. J Inherit Metab Dis 28:639–649
5. Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA (2007) The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis 30:29–34
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