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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

359 related items for PubMed ID: 19234759

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
    Thöny B, Blau N.
    Hum Mutat; 2006 Sep; 27(9):870-8. PubMed ID: 16917893
    [Abstract] [Full Text] [Related]

  • 4. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
    Himmelreich N, Blau N, Thöny B.
    Mol Genet Metab; 2021 Jun; 133(2):123-136. PubMed ID: 33903016
    [Abstract] [Full Text] [Related]

  • 5. 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; 47(3):477-85. PubMed ID: 11238300
    [Abstract] [Full Text] [Related]

  • 6. [Biopterin and child neurologic disease].
    Shintaku H.
    No To Hattatsu; 2009 Jan; 41(1):5-10. PubMed ID: 19172809
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.
    Smith I, Hyland K, Kendall B.
    J Inherit Metab Dis; 1985 Oct; 8 Suppl 1():39-45. PubMed ID: 3930840
    [Abstract] [Full Text] [Related]

  • 17. [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
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002 Apr; 60(2):165-71. PubMed ID: 11937441
    [Abstract] [Full Text] [Related]

  • 20. Molecular and enzymatic characterization of two enzymes BmPCD and BmDHPR involving in the regeneration pathway of tetrahydrobiopterin from the silkworm Bombyx mori.
    Li W, Gong M, Shu R, Li X, Gao J, Meng Y.
    Comp Biochem Physiol B Biochem Mol Biol; 2015 Aug; 186():20-7. PubMed ID: 25899859
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 18.