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4. [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]
5. 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]
6. Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia. Brewster TG; Moskowitz MA; Kaufman S; Breslow JL; Milstien S; Abroms IF Pediatrics; 1979 Jan; 63(1):94-9. PubMed ID: 312482 [TBL] [Abstract][Full Text] [Related]
7. Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin. McInnes RR; Kaufman S; Warsh JJ; Van Loon GR; Milstien S; Kapatos G; Soldin S; Walsh P; MacGregor D; Hanley WB J Clin Invest; 1984 Feb; 73(2):458-69. PubMed ID: 6142058 [TBL] [Abstract][Full Text] [Related]
8. [Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]. Ye J; Qiu WJ; Han LS; Zhang HW; Zhou JD; Gao XL; Wang Y; Gu XF Zhonghua Er Ke Za Zhi; 2008 Apr; 46(4):281-5. PubMed ID: 19099731 [TBL] [Abstract][Full Text] [Related]
9. Neopterin and biopterin levels in patients with atypical forms of phenylketonuria. Nixon JC; Lee CL; Milstien S; Kaufman S; Bartholomé K J Neurochem; 1980 Oct; 35(4):898-904. PubMed ID: 7452296 [TBL] [Abstract][Full Text] [Related]
10. Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. Ponzone A; Guardamagna O; Spada M; Ponzone R; Sartore M; Kierat L; Heizmann CW; Blau N Clin Chim Acta; 1993 Jul; 216(1-2):63-71. PubMed ID: 8222274 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. Milstien S; Kaufman S; Summer GK Pediatrics; 1980 Apr; 65(4):806-10. PubMed ID: 7367090 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Bonafé L; Thöny B; Penzien JM; Czarnecki B; Blau N Am J Hum Genet; 2001 Aug; 69(2):269-77. PubMed ID: 11443547 [TBL] [Abstract][Full Text] [Related]
15. Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. Shintaku H; Ohwada M Brain Dev; 2013 May; 35(5):406-10. PubMed ID: 22832064 [TBL] [Abstract][Full Text] [Related]
16. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. Capistrano-Estrada SB; Nyhan WL Southeast Asian J Trop Med Public Health; 2003; 34 Suppl 3():186-8. PubMed ID: 15906733 [TBL] [Abstract][Full Text] [Related]
17. Tetrahydrobiopterin deficiency and an international database of patients. Blau N; Dhondt JL Adv Exp Med Biol; 1993; 338():255-61. PubMed ID: 8304121 [No Abstract] [Full Text] [Related]
18. Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis. Güttler F; Lou H; Lykkelund C; Niederwieser A Eur J Pediatr; 1984 Jun; 142(2):126-9. PubMed ID: 6468427 [TBL] [Abstract][Full Text] [Related]
19. [Biopterin and child neurologic disease]. Shintaku H No To Hattatsu; 2009 Jan; 41(1):5-10. PubMed ID: 19172809 [TBL] [Abstract][Full Text] [Related]