Suspected pterin-4a-carbinolamine dehydratase deficiency: Hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin

Author:

Adler C.,Ghisla S.,Rebrin I.,Heizmann C. W.,Blau N.,Curtius H. -Ch.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Adler C, Curtius H-Ch, Datta S, Viscontini M (1990) A simple synthesis of 5-deoxy-l-[5-2H1]arabinose andl-[3′-2H1]biopterin.Helv Chim Acta 73: 1058–1063.

2. Adler C, Curtius H-Ch, Pfleiderer W (1991) Theoretical considerations regarding the synthesis of 7-substituted pterins. In Blau N, Curtius H-Ch, Levine RA, Cotton RGH, eds)Pterins and Biogenic Amines in Neurology, Pediatrics and Immunology, Grosse Pointe, MI: Lakeshore Publishing Co., 69–72.

3. Curtius H-Ch, Kuster T, Matasovic A, Blau N, Dhondt J-L (1988) Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenyl-alaninemia.Biochem Biophys Res Commun 153: 715–721.

4. Curtius H-Ch, Adler C, Matasovic A, Akino M (1989) 7-Substituted pterins, a new class of mammalian pteridines. In Curtius H-Ch, Ghisla S, Blau N, eds.Chemistry and Biology of Pteridines. Berlin: Walter de Gruyter, 274–285.

5. Curtius H-Ch, Kuster T, Matasovic A et al (1990a) 7-Substituted pterins. A new class of mammalian pteridines.J Biol Chem 265: 3923–3930.

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