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.
62. NADH-ferric reductase activity associated with dihydropteridine reductase. Lee PL; Halloran C; Cross AR; Beutler E Biochem Biophys Res Commun; 2000 May; 271(3):788-95. PubMed ID: 10814540 [TBL] [Abstract][Full Text] [Related]
63. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400 [TBL] [Abstract][Full Text] [Related]
64. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Cregeen DP; Williams EL; Hulton S; Rumsby G Hum Mutat; 2003 Dec; 22(6):497. PubMed ID: 14635115 [TBL] [Abstract][Full Text] [Related]
65. A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis. Aalfs CM; Salieb-Beugelaar GB; Wanders RJ; Mannens MM; Wijburg FA Hum Mutat; 2000; 16(1):18-22. PubMed ID: 10874300 [TBL] [Abstract][Full Text] [Related]
67. Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC 1.6.5.1) to chromosome 4. Kuhl P; Olek K; Wardenbach P; Grzeschik KH Hum Genet; 1979; 53(1):47-9. PubMed ID: 295043 [TBL] [Abstract][Full Text] [Related]
68. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. Ye J; Qiu WJ; Han LS; Zhou JD; Gao XL; Gu XF Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb; 43(2):128-31. PubMed ID: 19534905 [TBL] [Abstract][Full Text] [Related]
69. Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. Fard-Esfahani P; Lari GR; Ravanbod S; Mirkhani F; Allahyari M; Rassoulzadegan M; Ala F Haemophilia; 2008 Jan; 14(1):91-5. PubMed ID: 18005151 [TBL] [Abstract][Full Text] [Related]
70. [Active form of dihydropteridine reductase in human chorion cells. Possibility of prenatal diagnosis]. Gromov PS; Bakharev VA; Annenkov GA Vopr Med Khim; 1985; 31(4):73-5. PubMed ID: 4049790 [TBL] [Abstract][Full Text] [Related]
71. DHPR activity decrease in dried blood spots stored at 4 degrees C. Lenzi G; Pistone D; Zammarchi E; Benini MP; La Torre A; Matteoni D Enzyme; 1989; 41(1):43-6. PubMed ID: 2731491 [TBL] [Abstract][Full Text] [Related]
72. Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns. Lipson AH; Earl JW; Wilcken B; Yu JS; O'Halloran M; Cotton RG J Inherit Metab Dis; 1991; 14(1):49-52. PubMed ID: 1861459 [TBL] [Abstract][Full Text] [Related]
73. Dihydropteridine reductase activity in eluates from dried blood spots: automation of an assay for a national screening service. Surplice IM; Griffiths PD; Green A; Leeming RJ J Inherit Metab Dis; 1990; 13(2):169-77. PubMed ID: 2116547 [TBL] [Abstract][Full Text] [Related]
74. Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Lilleväli H; Pajusalu S; Wojcik MH; Goodrich J; Collins RL; Murumets Ü; Tammur P; Blau N; Lilleväli K; Õunap K Mol Genet Genomic Med; 2020 Apr; 8(4):e1154. PubMed ID: 32022462 [TBL] [Abstract][Full Text] [Related]
75. NcoI and HinfI RFLPs detected with a dihydropteridine reductase cDNA probe. Wake S; Hutchison W; Dahl HH Nucleic Acids Res; 1988 Apr; 16(7):3124. PubMed ID: 2897117 [No Abstract] [Full Text] [Related]
76. Dihydropteridine reductase activity: lack of association with serum aluminum levels and cognitive functioning in patients with end-stage renal disease. Bolla KI; Milstien S; Briefel G; Wieler L; Kaufman S Neurology; 1991 Nov; 41(11):1806-9. PubMed ID: 1944913 [TBL] [Abstract][Full Text] [Related]
77. Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer. Mikami H; Matsubara Y; Hayasaka K; Narisawa K; Obinata M; Watanabe A; Haginoya K; Miyabayashi S; Tada K; Dahl HH J Inherit Metab Dis; 1990; 13(5):787-91. PubMed ID: 2174091 [No Abstract] [Full Text] [Related]
78. Letter: New forms of phenylketonuria. Kaufman S; Milstien S; Bartholomé K Lancet; 1975 Oct; 2(7937):708. PubMed ID: 52081 [No Abstract] [Full Text] [Related]
79. Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation. Gowda VK; Vegda H; Benakappa N; Benakappa A Indian J Pediatr; 2018 Sep; 85(9):812-813. PubMed ID: 29594939 [No Abstract] [Full Text] [Related]