Current status of biopterin screening
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference21 articles.
1. Phenylalanine hydroxylating cofactor in phenylketonuria;Kaufman;Science,1958
2. Biopterin in metabolic disease;Kaufman,1979
3. The phenylalanine hydroxylating system from mammalian liver;Kaufman;Adv Enzymol,1971
4. New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction;Smith;Lancet,1975
5. Phenylketonuria due to a deficiency of dihydropteridine reductase;Kaufman;N Engl J Med,1975
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1. In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model;Molecular Genetics and Metabolism;2009-11
2. Phenylketonuria in Greece: 12 year's experience;Journal of Intellectual Disability Research;2008-06-28
3. Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia;Pediatric Research;1991-11
4. Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-Years experience;Journal of Inherited Metabolic Disease;1991-03
5. Combined transient and peripheral defects in tetrahydrobiopterin synthesis;The Journal of Pediatrics;1991-02
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