These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 2990933)

  • 1. Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver.
    Niederwieser A; Leimbacher W; Curtius HC; Ponzone A; Rey F; Leupold D
    Eur J Pediatr; 1985 May; 144(1):13-6. PubMed ID: 2990933
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prenatal diagnosis of "dihydrobiopterin synthetase" deficiency, a variant form of phenylketonuria.
    Niederwieser A; Shintaku H; Hasler T; Curtius HC; Lehmann H; Guardamagna O; Schmidt H
    Eur J Pediatr; 1986 Aug; 145(3):176-8. PubMed ID: 3533549
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.
    Niederwieser A; Curtius HC; Bettoni O; Bieri J; Schircks B; Viscontini M; Schaub J
    Lancet; 1979 Jan; 1(8108):131-3. PubMed ID: 84153
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Purification and properties of the phosphate eliminating enzyme involved in the biosynthesis of BH4 in man.
    Heintel D; Leimbacher W; Redweik U; Zagalak B; Curtius HC
    Biochem Biophys Res Commun; 1985 Feb; 127(1):213-9. PubMed ID: 2983706
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biosynthesis of tetrahydrobiopterin in man.
    Curtius HC; Heintel D; Ghisla S; Kuster T; Leimbacher W; Niederwieser A
    J Inherit Metab Dis; 1985; 8 Suppl 1():28-33. PubMed ID: 3930838
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Tetrahydrobiopterin is synthesized by separate pathways from dihydroneopterin triphosphate and from sepiapterin in adrenal medulla preparations.
    Smith GK; Nichol CA
    Arch Biochem Biophys; 1983 Nov; 227(1):272-8. PubMed ID: 6639080
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biosynthesis of tetrahydrobiopterin: a sensitive assay of 6-pyruvoyltetrahydropterin synthase using [2'-3H]dihydroneopterin 3'-triphosphate as substrate.
    Kerler F; Schwarzkopf B; Katzenmaier G; Le Van Q; Schmid C; Ziegler I; Bacher A
    Biochim Biophys Acta; 1989 Jan; 990(1):15-7. PubMed ID: 2492436
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man.
    Niederwieser A; Curtius HC; Wang M; Leupold D
    Eur J Pediatr; 1982 Mar; 138(2):110-2. PubMed ID: 7094929
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Dyspropterin, an intermediate formed from dihydroneopterin triphosphate in the biosynthetic pathway of tetrahydrobiopterin.
    Masada M; Akino M; Sueoka T; Katoh S
    Biochim Biophys Acta; 1985 Jun; 840(2):235-44. PubMed ID: 3888282
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Immunological evidence for the requirement of sepiapterin reductase for tetrahydrobiopterin biosynthesis in brain.
    Levine RA; Kapatos G; Kaufman S; Milstien S
    J Neurochem; 1990 Apr; 54(4):1218-24. PubMed ID: 2179471
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers.
    Shintaku H; Niederwieser A; Leimbacher W; Curtius HC
    Eur J Pediatr; 1988 Jan; 147(1):15-9. PubMed ID: 3276524
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biosynthesis of biopterin. Studies on the mechanism of 6-pyruvoyltetrahydropteridine synthase.
    Le Van Q; Katzenmeier G; Schwarzkopf B; Schmid C; Bacher A
    Biochem Biophys Res Commun; 1988 Feb; 151(1):512-7. PubMed ID: 3279951
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tetrahydrobiopterin biosynthesis. Studies with specifically labeled (2H)NAD(P)H and 2H2O and of the enzymes involved.
    Curtius HC; Heintel D; Ghisla S; Kuster T; Leimbacher W; Niederwieser A
    Eur J Biochem; 1985 May; 148(3):413-9. PubMed ID: 3888618
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
    Dhondt JL; Farriaux JP; Largilliere C; Dautrevaux M; Ardouin P
    J Inherit Metab Dis; 1981; 4(2):47-8. PubMed ID: 6790841
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Differential diagnosis of tetrahydrobiopterin deficiency.
    Niederwieser A; Ponzone A; Curtius HC
    J Inherit Metab Dis; 1985; 8 Suppl 1():34-8. PubMed ID: 3930839
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin.
    Dhondt JL; Cotton RG; Danks DM
    J Inherit Metab Dis; 1985; 8(2):47-8. PubMed ID: 3939528
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biosynthesis of tetrahydrobiopterin: conversion of dihydroneopterin triphosphate to tetrahydropterin intermediates.
    Milstien S; Kaufman S
    Biochem Biophys Res Commun; 1985 May; 128(3):1099-107. PubMed ID: 4004850
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
    Blau N; Bonafé L; Thöny B
    Mol Genet Metab; 2001; 74(1-2):172-85. PubMed ID: 11592814
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Atypical form of phenylketonuria caused by lack of dihydrobiopterin synthetase activity].
    Słowik M; Mańkowski T
    Pol Tyg Lek; 1992 Mar 2-9; 47(9-10):236-7. PubMed ID: 1437828
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
    Ponzone A; Guardamagna O; Spada M; Ferraris S; Ponzone R; Kierat L; Blau N
    Eur J Pediatr; 1993 Aug; 152(8):655-61. PubMed ID: 8404969
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.