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4. Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria. Kaufman S; Berlow S; Summer GK; Milstien S; Schulman JD; Orloff S; Spielberg S; Pueschel S N Engl J Med; 1978 Sep; 299(13):673-9. PubMed ID: 683251 [TBL] [Abstract][Full Text] [Related]
5. Screening for biopterin defects in newborns with phenylketonuria and other hyperphenylalaninemias. Matalon R; Michals K; Lee CL; Nixon JC Ann Clin Lab Sci; 1982; 12(5):411-4. PubMed ID: 6753726 [No Abstract] [Full Text] [Related]
6. [Hyperphenylalaninemia on account of biopterin deficiency. The phenylalanine hydroxylase complex and presentation of a patient with cofactor deficiency]. Beck B Ugeskr Laeger; 1983 Nov; 145(48):3725-7. PubMed ID: 6665886 [No Abstract] [Full Text] [Related]
7. [Biogenic amines and hyperphenylalaninemia (author's transl)]. Tada K; Narisawa K Tanpakushitsu Kakusan Koso; 1981 Aug; 26(11):1765-71. PubMed ID: 7029642 [No Abstract] [Full Text] [Related]
8. Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia). Danks DM; Cotton RG J Pediatr; 1980 May; 96(5):854-6. PubMed ID: 7365585 [No Abstract] [Full Text] [Related]
10. Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy. Endres W; Niederwieser A; Curtius HC; Wang M; Ohrt B; Schaub J Helv Paediatr Acta; 1982; 37(5):489-98. PubMed ID: 6761317 [TBL] [Abstract][Full Text] [Related]
11. Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants. Leeming RJ; Barford PA; Blair JA; Smith I Arch Dis Child; 1984 Jan; 59(1):58-61. PubMed ID: 6696496 [TBL] [Abstract][Full Text] [Related]
12. Biopterin defect in a normal-appearing child affected by a transient phenylketonuria. Rey F; Leeming RJ; Blair JA; Rey J Arch Dis Child; 1980 Aug; 55(8):637-9. PubMed ID: 7436521 [TBL] [Abstract][Full Text] [Related]
14. A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency. Cotton RG J Inherit Metab Dis; 1986; 9(1):4-14. PubMed ID: 3088325 [TBL] [Abstract][Full Text] [Related]
15. Current status of biopterin screening. Matalon R J Pediatr; 1984 Apr; 104(4):579-81. PubMed ID: 6707819 [No Abstract] [Full Text] [Related]
16. Malignant phenylketonuria due to defective synthesis of dihydrobiopterin. Cohen BE; Szeinberg A; Quint J; Normand M; Blonder J; Peled I Isr J Med Sci; 1985 Jun; 21(6):520-5. PubMed ID: 3874852 [TBL] [Abstract][Full Text] [Related]
17. Progress in phenylketonuria: defects in the metabolism of biopterin. Berlow S Pediatrics; 1980 Apr; 65(4):837-9. PubMed ID: 7367097 [No Abstract] [Full Text] [Related]
18. Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. Smith I; Hyland K; Kendall B J Inherit Metab Dis; 1985; 8 Suppl 1():39-45. PubMed ID: 3930840 [TBL] [Abstract][Full Text] [Related]
19. A defective enzyme in hyperphenylalaninaemia due to biopterin deficiency. Yoshioka S; Masada M; Yoshida T; Mizokami T; Akino M; Matsuo N; Tsuchiya T; Seki T; Arashima S; Kawaguchi M J Inherit Metab Dis; 1983; 6(3):127-8. PubMed ID: 6422145 [No Abstract] [Full Text] [Related]
20. Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis. Tanaka T; Aihara K; Iwai K; Kohashi M; Tomita K; Narisawa K; Arai N; Yoshida H; Usui T Eur J Pediatr; 1981 Jul; 136(3):275-80. PubMed ID: 7262099 [No Abstract] [Full Text] [Related] [Next] [New Search]