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2. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. Dhondt JL; Hayte JM Ann Biol Clin (Paris); 2002; 60(2):165-71. PubMed ID: 11937441 [TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
6. [Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients]. Zhang ZX; Ye J; Qiu WJ; Han LS; Gu XF Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):438-40. PubMed ID: 16086286 [TBL] [Abstract][Full Text] [Related]
7. Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening. Naylor EW; Ennis D; Davidson AG; Wong LT; Applegarth DA; Niederwieser A Pediatrics; 1987 Mar; 79(3):374-8. PubMed ID: 3822637 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Measurement of dihydropteridine reductase activity in dried blood eluates: physiological and pathological implications]. Dhondt JL Ann Biol Clin (Paris); 1992; 50(9):653-8. PubMed ID: 1298171 [TBL] [Abstract][Full Text] [Related]
17. [Determination of phenylalanine-4-hydroxylase as a parameter in the differential diagnosis of hyperphenylalaninemia]. Kukla L; Mrskos A; Pijácková A; Podhradská O Cesk Pediatr; 1987 Sep; 42(9):542-5. PubMed ID: 3664770 [No Abstract] [Full Text] [Related]
18. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. Feillet F; Chery C; Namour F; Kimmoun A; Favre E; Lorentz E; Battaglia-Hsu SF; Guéant JL Early Hum Dev; 2008 Sep; 84(9):561-7. PubMed ID: 18321666 [TBL] [Abstract][Full Text] [Related]
19. Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. Dhondt JL J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S219-23. PubMed ID: 20458544 [TBL] [Abstract][Full Text] [Related]
20. Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. Bartholomé K; Byrd DJ; Kaufman S; Milstien S Pediatrics; 1977 May; 59(5):757-61. PubMed ID: 300866 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]