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Journal Abstract Search

169 related items for PubMed ID: 2079836

  • 21. 7-Substituted pterins. A new class of mammalian pteridines.
    Curtius HC, Matasovic A, Schoedon G, Kuster T, Guibaud P, Giudici T, Blau N.
    J Biol Chem; 1990 Mar 05; 265(7):3923-30. PubMed ID: 2303485
    [Abstract] [Full Text] [Related]

  • 22. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
    Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N.
    Clin Chem; 2001 Mar 05; 47(3):477-85. PubMed ID: 11238300
    [Abstract] [Full Text] [Related]

  • 23. Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
    Opladen T, Abu Seda B, Rassi A, Thöny B, Hoffmann GF, Blau N.
    J Inherit Metab Dis; 2011 Jun 05; 34(3):819-26. PubMed ID: 21416196
    [Abstract] [Full Text] [Related]

  • 24. 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 05; 145(3):176-8. PubMed ID: 3533549
    [Abstract] [Full Text] [Related]

  • 25. [Disorders of tetrahydrobiopterin homeostasis].
    Shintaku H, Asada M, Isshiki G, Sawada Y.
    Ryoikibetsu Shokogun Shirizu; 1998 Aug 05; (18 Pt 1):125-9. PubMed ID: 9590005
    [No Abstract] [Full Text] [Related]

  • 26. Monoamine neurotransmitter deficiencies.
    Pearl PL.
    Handb Clin Neurol; 2013 Aug 05; 113():1819-25. PubMed ID: 23622404
    [Abstract] [Full Text] [Related]

  • 27. Differential diagnosis of variant forms of hyperphenylalaninaemia by urinary pterins.
    Hayakawa H, Narisawa K, Arai N, Tada K, Matsuo N, Tanaka T, Naritomi K.
    J Inherit Metab Dis; 1983 Aug 05; 6(3):123-4. PubMed ID: 6422143
    [No Abstract] [Full Text] [Related]

  • 28. GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report.
    Dayasiri KC, Suraweera N, Nawarathne D, Senanayake UE, Dayanath BKTP, Jasinge E, Weerasekara K.
    BMC Pediatr; 2019 Jun 15; 19(1):199. PubMed ID: 31202265
    [Abstract] [Full Text] [Related]

  • 29. Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin.
    Dhondt JL, Cotton RG, Danks DM.
    J Inherit Metab Dis; 1985 Jun 15; 8(2):47-8. PubMed ID: 3939528
    [Abstract] [Full Text] [Related]

  • 30.
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  • 31. Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
    Coşkun T, Karagöz T, Kalkanoğlu S, Tokatli A, Ozalp I, Thöny B, Blau N.
    Turk J Pediatr; 1999 Jun 15; 41(2):231-7. PubMed ID: 10770663
    [Abstract] [Full Text] [Related]

  • 32. Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.
    Dhondt JL.
    J Pediatr; 1984 Apr 15; 104(4):501-8. PubMed ID: 6142937
    [Abstract] [Full Text] [Related]

  • 33. A case of tyrosinaemia type I with normal level of succinylacetone in the amniotic fluid.
    Grenier A, Cederbaum S, Laberge C, Gagné R, Jakobs C, Tanguay RM.
    Prenat Diagn; 1996 Mar 15; 16(3):239-42. PubMed ID: 8710777
    [Abstract] [Full Text] [Related]

  • 34. 7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins.
    Adler C, Ghisla S, Rebrin I, Haavik J, Heizmann CW, Blau N, Kuster T, Curtius HC.
    Eur J Biochem; 1992 Aug 15; 208(1):139-44. PubMed ID: 1355046
    [Abstract] [Full Text] [Related]

  • 35. 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 15; 152(8):655-61. PubMed ID: 8404969
    [Abstract] [Full Text] [Related]

  • 36. Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies.
    Kleijer WJ, Blom W, Huijmans JG, Mooyman MC, Berger R, Niermeijer MF.
    Prenat Diagn; 1984 Aug 15; 4(2):113-8. PubMed ID: 6739433
    [Abstract] [Full Text] [Related]

  • 37. Inhibition of GTP cyclohydrolase I by pterins.
    Shen RS, Alam A, Zhang YX.
    Biochim Biophys Acta; 1988 Apr 14; 965(1):9-15. PubMed ID: 3349105
    [Abstract] [Full Text] [Related]

  • 38. A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.
    Blau N, Ichinose H, Nagatsu T, Heizmann CW, Zacchello F, Burlina AB.
    J Pediatr; 1995 Mar 14; 126(3):401-5. PubMed ID: 7869202
    [Abstract] [Full Text] [Related]

  • 39. Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity.
    McDonald JD, Cotton RG, Jennings I, Ledley FD, Woo SL, Bode VC.
    J Neurochem; 1988 Feb 14; 50(2):655-7. PubMed ID: 3335865
    [Abstract] [Full Text] [Related]

  • 40.
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