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11. A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes. Nakabayashi H; Owada M; Kitagawa T J Inherit Metab Dis; 1984; 7(3):135-6. PubMed ID: 6438398 [No Abstract] [Full Text] [Related]
13. Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases. Longhi R; Riva E; Valsasina R; Paccanelli S; Giovannini M J Inherit Metab Dis; 1985; 8 Suppl 2():97-8. PubMed ID: 3930875 [No Abstract] [Full Text] [Related]
14. Letter: Pterin administration as a therapy for P.K.U. due to dihydropteridine-reductase deficiency? Kaufman S Lancet; 1975 Oct; 2(7938):767. PubMed ID: 52788 [No Abstract] [Full Text] [Related]
15. Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. Milstien S; Holtzman NA; O'Flynn ME; Thomas GH; Butler IJ; Kaufman S J Pediatr; 1976 Nov; 89(5):763-6. PubMed ID: 978323 [TBL] [Abstract][Full Text] [Related]
16. Atypical phenylketonuria with normal dihydropteridine reductase activity. Rey F; Blandin-Savoja F; Rey J N Engl J Med; 1976 Nov; 295(20):1138-9. PubMed ID: 980015 [No Abstract] [Full Text] [Related]
17. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots. Arai N; Narisawa K; Hayakawa H; Tada K Pediatrics; 1982 Sep; 70(3):426-30. PubMed ID: 7110817 [TBL] [Abstract][Full Text] [Related]
18. [Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase]. Rey F; Harpey JP; Leeming RJ; Blair JA; Aicardi J; Rey J Arch Fr Pediatr; 1977; 34(7 Suppl):CIX-CXX. PubMed ID: 931522 [TBL] [Abstract][Full Text] [Related]
19. Tetrahydrofolate and hydroxocobolamin in the management of dihydropteridine reductase deficiency. Leeming RJ; Harpey JP; Brown SM; Blair JA J Ment Defic Res; 1982 Mar; 26(Pt 1):21-5. PubMed ID: 6978943 [No Abstract] [Full Text] [Related]
20. Phenylketonuria and its variants. Kaufman S; Milstien S Ann Clin Lab Sci; 1977; 7(2):178-85. PubMed ID: 557947 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]