Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency

Author:

Dhondt Jean-Louis

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Abadie V, Berthelot J, Feillet F, Maurin N, Mercier A, Ogier de Baulny H, de Parscau L (2005) Concensus national sur la prise encharge des enfants dépistés avec une hyperphénylalaninémie. Arch Pediatr 12:594–601

2. Blau N (2006) Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies. In: Blau N (ed) PKU and BH4: advances in Phenylketonuria and Tetrahydrobiopterin. SPS, Heilbronn, pp 555–567

3. Blau N, Dhondt JL (2006) BIODEF: International Database of tetrahydrobiopterin deficiencies.( http://www.biopku.org ). In: Blau N. (ed) PKU and BH4 : advances in Phenylketonuria and Tetrahydrobiopterin. SPS Publishing, Heilbronn, p 701–706

4. Curtius HCh, Kuster Th, Matasovic A, Blau N, Dhondt JL (1988). Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. Biochem Biophys Res Commun 153:715–721

5. Dhondt JL (1991) Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients: 15 years experience. J Inherit Metab Dis 14:117–127

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