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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

269 related items for PubMed ID: 33903016

  • 1.
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  • 3. Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.
    Nezhad SRK, Aligoodarzi PN, Rostami G, Shariati G, Galehdari H, Saberi A, Sedaghat A, Hamid M.
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2294. PubMed ID: 37818795
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  • 4. 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
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  • 5. 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 Mar; 74(1-2):172-85. PubMed ID: 11592814
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  • 6. [Biopterin and child neurologic disease].
    Shintaku H.
    No To Hattatsu; 2009 Jan; 41(1):5-10. PubMed ID: 19172809
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  • 7. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
    Opladen T, Hoffmann GF, Blau N.
    J Inherit Metab Dis; 2012 Nov; 35(6):963-73. PubMed ID: 22729819
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  • 8. Disorders of tetrahydrobiopterin metabolism and their treatment.
    Shintaku H.
    Curr Drug Metab; 2002 Apr; 3(2):123-31. PubMed ID: 12003346
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  • 9. Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
    Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE.
    Mol Genet Metab; 2007 Mar; 90(3):277-83. PubMed ID: 17188538
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  • 10. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
    Ye J, Liu XQ, Qiu WJ, Han LS, Zhou JD, Zhang YF, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):210-2. PubMed ID: 17407085
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  • 11. Disorders of biopterin metabolism.
    Longo N.
    J Inherit Metab Dis; 2009 Jun; 32(3):333-42. PubMed ID: 19234759
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  • 13. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
    Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A, French Dystonia Network.
    Brain; 2009 Jul; 132(Pt 7):1753-63. PubMed ID: 19491146
    [Abstract] [Full Text] [Related]

  • 14. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
    Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O, International Working Group on Neurotransmitter related Disorders (iNTD).
    Orphanet J Rare Dis; 2020 May 26; 15(1):126. PubMed ID: 32456656
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  • 15. Monoamine neurotransmitter deficiencies.
    Pearl PL.
    Handb Clin Neurol; 2013 May 26; 113():1819-25. PubMed ID: 23622404
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  • 17. Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
    Liu TT, Chiang SH, Wu SJ, Hsiao KJ.
    Clin Chim Acta; 2001 Nov 26; 313(1-2):157-69. PubMed ID: 11694255
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  • 19. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
    Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X.
    Chin Med J (Engl); 2002 Feb 26; 115(2):217-21. PubMed ID: 11940335
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