Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia)
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference17 articles.
1. Phenylketonuria due to a deficiency of dihydropteridine reductase;Kaufman;N Engl J Med,1978
2. Les hyperphenylalaninemies avec activité normale de la phenylalanine-hydroxylase;Rey;Arch Fr Pediatr,1977
3. Phenylalaninemia due to a deficiency of biopterin: a variant form of phenylketonuria;Kaufman;N Engl J Med,1978
4. Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis;Schaub;Arch Dis Child,1978
5. Atypical phenylketonuria caused by 7,8-dihydrobiopterin synthetase deficiency;Niederwieser;Lancet,1979
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1. Phenylketonuria in Greece: 12 year's experience;Journal of Intellectual Disability Research;2008-06-28
2. Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-Years experience;Journal of Inherited Metabolic Disease;1991-03
3. The dihydropteridine reductase (human brain) activity of some lipophilic quinonoid dihydropterins;European Journal of Medicinal Chemistry;1987-03
4. Dihydropteridine reductase (DHPR), its cofactors, and its mode of action;Medicinal Research Reviews;1984-07
5. Dihydropteridine reductase deficiency: Non-response to oral tetrahydrobiopterin load test;Journal of Inherited Metabolic Disease;1984-06
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