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Journal Abstract Search

316 related items for PubMed ID: 23622404

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

  • 2. What is new for monoamine neurotransmitter disorders?
    Marecos C, Ng J, Kurian MA.
    J Inherit Metab Dis; 2014 Jul; 37(4):619-26. PubMed ID: 24696406
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
    Opladen T, Hoffmann GF, Kühn AA, Blau N.
    Mol Genet Metab; 2013 Mar; 108(3):195-7. PubMed ID: 23375473
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Disorders of tetrahydrobiopterin metabolism and their treatment.
    Shintaku H.
    Curr Drug Metab; 2002 Apr; 3(2):123-31. PubMed ID: 12003346
    [Abstract] [Full Text] [Related]

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

  • 8. Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future.
    Jung-Klawitter S, Kuseyri Hübschmann O.
    Cells; 2019 Aug 09; 8(8):. PubMed ID: 31405045
    [Abstract] [Full Text] [Related]

  • 9. [Inborn errors of catecholamine metabolism].
    Suzuki T.
    Ryoikibetsu Shokogun Shirizu; 2000 Aug 09; (29 Pt 4):527-31. PubMed ID: 11032013
    [No Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 May 26; 74(1-2):172-85. PubMed ID: 11592814
    [Abstract] [Full Text] [Related]

  • 12. Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
    Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L.
    Orphanet J Rare Dis; 2015 Feb 08; 10():12. PubMed ID: 25758715
    [Abstract] [Full Text] [Related]

  • 13. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
    Opladen T, Hoffmann GF, Blau N.
    J Inherit Metab Dis; 2012 Nov 08; 35(6):963-73. PubMed ID: 22729819
    [Abstract] [Full Text] [Related]

  • 14. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
    Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA.
    Ann Neurol; 2003 Nov 08; 54 Suppl 6():S56-65. PubMed ID: 12891655
    [Abstract] [Full Text] [Related]

  • 15. Disorders of biopterin metabolism.
    Longo N.
    J Inherit Metab Dis; 2009 Jun 08; 32(3):333-42. PubMed ID: 19234759
    [Abstract] [Full Text] [Related]

  • 16. The pediatric neurotransmitter disorders.
    Pearl PL, Taylor JL, Trzcinski S, Sokohl A.
    J Child Neurol; 2007 May 08; 22(5):606-16. PubMed ID: 17690069
    [Abstract] [Full Text] [Related]

  • 17. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
    Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA.
    Neuropediatrics; 2002 Aug 08; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 18. Approaches for diagnosis and treatment in neurotransmitter disorders of childhood.
    Havalı C, Dorum S, Ekici A, Görükmez Ö.
    Metab Brain Dis; 2021 Dec 08; 36(8):2255-2262. PubMed ID: 34550503
    [Abstract] [Full Text] [Related]

  • 19. 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 08; 47(3):477-85. PubMed ID: 11238300
    [Abstract] [Full Text] [Related]

  • 20. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002 Mar 08; 60(2):165-71. PubMed ID: 11937441
    [Abstract] [Full Text] [Related]

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