Citations for
1SPR, SPRD
Sepiapterin reductase deficiency: Report of 5 new cases.
AlSubhi S, AlShahwan S, AlMuhaizae M, AlZaidan H, Tabarki B.
Eur J Paediatr Neurol 21(3):583-586. doi: 10.1016/j.ejpn.2017.01.010. Epub 2017 Jan 29. 2017
2SPR, SPRD
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.
Friedman JR.
Pediatr Neurol 59:76-80. doi: 10.1016/j.pediatrneurol.2015.12.016. Epub 2016 Mar 4. 2016
3SPR, SPRD
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Carducci C, Santagata S, Friedman J, Pasquini E, Carducci C, Tolve M, Angeloni A, Leuzzi V.
Mol Genet Metab 115(4):157-60. doi: 10.1016/j.ymgme.2015.06.009. Epub 2015 Jun 25. 2015
4SPR, SPRD
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.
Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T.
JIMD Rep 24:109-13. doi: 10.1007/8904_2015_450. Epub 2015 May 26. 2015
5SPRD
Clinical spectrum of dopa-responsive dystonia and related disorders.
Lee WW, Jeon BS.
Curr Neurol Neurosci Rep 14(7):461. doi: 10.1007/s11910-014-0461-9. Review. 2014
6SPR, SPRD
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, Thny B, Blau N.
Ann Neurol 71(4):520-30. doi: 10.1002/ana.22685. 2012
7SPR, SPRD
Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
Homma D, Sumi-Ichinose C, Tokuoka H, Ikemoto K, Nomura T, Kondo K, Katoh S, Ichinose H.
J Biol Chem 286(2):1445-52. doi: 10.1074/jbc.M110.159426. Epub 2010 Nov 9. 2011
8SPR, SPRD
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, Sn C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network.
Brain 132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2. 2009
9SPR, SPRD
A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease.
Takazawa C, Fujimoto K, Homma D, Sumi-Ichinose C, Nomura T, Ichinose H, Katoh S.
Biochem Biophys Res Commun 367(4):787-92. doi: 10.1016/j.bbrc.2008.01.028. Epub 2008 Jan 15. 2008
10SPR, SPRD
Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.
Tobin JE, Cui J, Wilk JB, Latourelle JC, Laramie JM, McKee AC, Guttman M, Karamohamed S, DeStefano AL, Myers RH.
Brain Res 1139:42-7. Epub 2007 Jan 8. 2007
11SPR, SPRD
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N.
Am J Hum Genet 69(2):269-77. 2001