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    Results: 16

    1.

    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. doi: 10.1007/s10545-012-9506-x. Epub 2012 Jun 23.

    PMID:
    22729819
    [PubMed - indexed for MEDLINE]
    2.

    Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

    Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N.

    Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685.

    PMID:
    22522443
    [PubMed - indexed for MEDLINE]
    3.

    Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

    Dill P, Wagner M, Somerville A, Thöny B, Blau N, Weber P.

    Neurology. 2012 Jan 31;78(5):e29-32. doi: 10.1212/WNL.0b013e3182452849. No abstract available.

    PMID:
    22291068
    [PubMed - indexed for MEDLINE]
    4.

    A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.

    Lohmann E, Köroğlu Ç, Hanagasi HA, Dursun B, Taşan E, Tolun A.

    Parkinsonism Relat Disord. 2012 Feb;18(2):191-3. doi: 10.1016/j.parkreldis.2011.10.001. Epub 2011 Oct 21.

    PMID:
    22018912
    [PubMed - indexed for MEDLINE]
    5.

    Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

    Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR.

    Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24.

    PMID:
    21431957
    [PubMed - indexed for MEDLINE]
    6.

    Sleep and rhythm consequences of a genetically induced loss of serotonin.

    Leu-Semenescu S, Arnulf I, Decaix C, Moussa F, Clot F, Boniol C, Touitou Y, Levy R, Vidailhet M, Roze E.

    Sleep. 2010 Mar;33(3):307-14.

    PMID:
    20337188
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.

    Wali GM, Thony B, Blau N.

    Mov Disord. 2010 May 15;25(7):954-5. doi: 10.1002/mds.23032. No abstract available.

    PMID:
    20222129
    [PubMed - indexed for MEDLINE]
    8.

    The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency.

    Meng Y, Katsuma S, Daimon T, Banno Y, Uchino K, Sezutsu H, Tamura T, Mita K, Shimada T.

    J Biol Chem. 2009 Apr 24;284(17):11698-705. doi: 10.1074/jbc.M900485200. Epub 2009 Feb 26.

    PMID:
    19246455
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Two Greek siblings with sepiapterin reductase deficiency.

    Verbeek MM, Willemsen MA, Wevers RA, Lagerwerf AJ, Abeling NG, Blau N, Thöny B, Vargiami E, Zafeiriou DI.

    Mol Genet Metab. 2008 Aug;94(4):403-9. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27.

    PMID:
    18502672
    [PubMed - indexed for MEDLINE]
    10.

    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. Epub 2006 Dec 22.

    PMID:
    17188538
    [PubMed - indexed for MEDLINE]
    11.

    Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

    Friedman J, Hyland K, Blau N, MacCollin M.

    Neurology. 2006 Dec 12;67(11):2032-5.

    PMID:
    17159114
    [PubMed - indexed for MEDLINE]
    12.

    Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.

    Echenne B, Roubertie A, Assmann B, Lutz T, Penzien JM, Thöny B, Blau N, Hoffmann GF.

    Pediatr Neurol. 2006 Nov;35(5):308-13.

    PMID:
    17074599
    [PubMed - indexed for MEDLINE]
    13.

    Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

    Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT.

    Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. Epub 2006 May 2.

    PMID:
    16650784
    [PubMed - indexed for MEDLINE]
    14.

    A murine model for human sepiapterin-reductase deficiency.

    Yang S, Lee YJ, Kim JM, Park S, Peris J, Laipis P, Park YS, Chung JH, Oh SP.

    Am J Hum Genet. 2006 Apr;78(4):575-87. Epub 2006 Jan 31.

    PMID:
    16532389
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

    Neville BG, Parascandalo R, Farrugia R, Felice A.

    Brain. 2005 Oct;128(Pt 10):2291-6. Epub 2005 Jul 27.

    PMID:
    16049044
    [PubMed - indexed for MEDLINE]
    Free Article
    16.

    Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members.

    Iino T, Tabata M, Takikawa S, Sawada H, Shintaku H, Ishikura S, Hara A.

    Arch Biochem Biophys. 2003 Aug 15;416(2):180-7.

    PMID:
    12893295
    [PubMed - indexed for MEDLINE]

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