Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency

Author:

Cerone Roberto,Andria Generoso,Giovannini Marcello,Leuzzi Vincenzo,Riva Enrica,Burlina Alberto

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),General Medicine

Reference52 articles.

1. Pangkanon S, Charoensiriwatana W, Janejai N, Boonwanich W, Chaisomchit S. Detection of phenylketonuria by the newborn screening program in Thailand. Southeast Asian J Trop Med Public Health. 2009;40:525–529.

2. Ozgüç M, Ozalp I, Coškun T, Yilmaz E, Erdem H, Ayter S. Mutation analysis in Turkish phenylketonuria patients. J Med Genet. 1993;30:129–130.

3. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011;104(Suppl.):S2–S9.

4. Italian Society for the Study of Hereditary Metabolic Diseases and Newborn Screening (SIMMESN). Annual technical report. 2010. Available at: http://www.sismme.it/it/documents/rt_screening/rt_screening_2010.pdf . Accessed Feb 4 2013.

5. Kure S, Hou DC, Ohura T, et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr. 1999;135:375–378.

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