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Select item 37555801.

Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

Curtis R. Coughlin, II, Keith Hyland, Rebecca Randall, Can Ficicioglu

JIMD Rep. 2013; 10: 53–56. Published online 2012 Dec 29. doi: 10.1007/8904_2012_202

PMCID:: PMC3755580

Abstract Article PDF–120K

Select item 30357072.

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Siddharth Banka, Henk J. Blom, John Walter, Majid Aziz, Jill Urquhart, Christopher M. Clouthier, Gillian I. Rice, Arjan P.M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E.C. Smith, Yvo M. Smulders, Ron A. Wevers, Robert Steinfeld, Simon Heales, Yanick J. Crow, Joelle N. Pelletier, Simon Jones, William G. Newman

Am J Hum Genet. 2011 Feb 11; 88(2): 216–225. doi: 10.1016/j.ajhg.2011.01.004

PMCID:: PMC3035707

Abstract Article PDF–969K

Select item 30540233.

Cortisone-reductase deficiency associated with heterozygous mutations in 11β-hydroxysteroid dehydrogenase type 1

Alexander J. Lawson, Elizabeth A. Walker, Gareth G. Lavery, Iwona J. Bujalska, Beverly Hughes, Wiebke Arlt, Paul M. Stewart, Jonathan P. Ride

Proc Natl Acad Sci U S A. 2011 Mar 8; 108(10): 4111–4116. Published online 2011 Feb 15. doi: 10.1073/pnas.1014934108

PMCID:: PMC3054023

Abstract Article PDF–590K

Select item 31036384.

Aldose reductase deficiency protects sugar-induced lens opacification in rats.

Aramati BM Reddy, Ravinder Tammali, Rakesh Mishra, Shriram Srivastava, Satish K Srivastava, Kota V Ramana

Chem Biol Interact. Author manuscript; available in PMC 2012 May 30.

Published in final edited form as: Chem Biol Interact. 2011 May 30; 191(1-3): 346–350. Published online 2011 Mar 3. doi: 10.1016/j.cbi.2011.02.028

PMCID:: PMC3103638

Abstract Article PDF–141K

Select item 31107505.

Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice

Liyuan Deng, C. Lee Elmore, Andrea K. Lawrance, Rowena G. Matthews, Rima Rozen

Mol Genet Metab. Author manuscript; available in PMC 2011 Jun 8.

Published in final edited form as: Mol Genet Metab. 2008 Jul; 94(3): 336–342. Published online 2008 Apr 14. doi: 10.1016/j.ymgme.2008.03.004

PMCID:: PMC3110750

Abstract Article PDF–743K

Select item 32335216.

Aldose reductase deficiency in mice protects from ragweed pollen extract (RWE)-induced allergic asthma

Umesh CS Yadav, Leopoldo Aguilera-Aguirre, Istvan Boldogh, Kota V Ramana, Satish K Srivastava

Respir Res. 2011; 12(1): 145. Published online 2011 Nov 3. doi: 10.1186/1465-9921-12-145

PMCID:: PMC3233521

Abstract Article PDF–888K

Select item 33783007.

Endothelium-specific sepiapterin reductase deficiency in DOCA-salt hypertension

Ji Youn Youn, Ting Wang, John Blair, Karine M. Laude, Jeong-Ho Oak, Louise A. McCann, David G. Harrison, Hua Cai

Am J Physiol Heart Circ Physiol. 2012 Jun 1; 302(11): H2243–H2249. Published online 2012 Mar 30. doi: 10.1152/ajpheart.00835.2011

PMCID:: PMC3378300

Abstract Article

Select item 34283798.

Life with too much polyprenol–polyprenol reductase deficiency

J.E.H. Gründahl, Z. Guan, S. Rust, J. Reunert, B. Müller, I. Du Chesne, K. Zerres, S. Rudnik-Schöneborn, N. Ortiz-Brüchle, M.G. Häusler, J. Siedlecka, E. Swiezewska, C.R.H. Raetz, T. Marquardt

Mol Genet Metab. Author manuscript; available in PMC 2012 Aug 27.

Published in final edited form as: Mol Genet Metab. 2012 Apr; 105(4): 642–651. Published online 2011 Dec 29. doi: 10.1016/j.ymgme.2011.12.017

PMCID:: PMC3428379

Abstract Article PDF–4.1M

Select item 35098609.

Levodopa Response Reveals Sepiapterin Reductase Deficiency in a Female Heterozygote with Adrenoleukodystrophy

Ronald Thibert, Keith Hyland, Joe Chiles, Steven Steinberg, Florian Eichler

JIMD Rep. 2012; 3: 79–82. Published online 2011 Sep 16. doi: 10.1007/8904_2011_65

PMCID:: PMC3509860

Abstract Article PDF–159K

Select item 351132110.

Thioredoxin Reductase Deficiency Potentiates Oxidative Stress, Mitochondrial Dysfunction and Cell Death in Dopaminergic Cells

Pamela Lopert, Brian J. Day, Manisha Patel

PLoS One. 2012; 7(11): e50683. Published online 2012 Nov 30. doi: 10.1371/journal.pone.0050683

PMCID:: PMC3511321

Abstract Article PDF–1.0M

Select item 353170311.

Primary ∆4-3-oxosteroid 5β-reductase deficiency: Two cases in China

Jing Zhao, Ling-Juan Fang, Kenneth DR Setchell, Rui Chen, Li-Ting Li, Jian-She Wang

World J Gastroenterol. 2012 Dec 21; 18(47): 7113–7117. Published online 2012 Dec 21. doi: 10.3748/wjg.v18.i47.7113

PMCID:: PMC3531703

Abstract Article PDF–762K

Select item 364342312.

S-nitrosoglutathione reductase deficiency increases mutagenesis from alkylation in mouse liver

James Leung, Wei Wei, Limin Liu

Carcinogenesis. 2013 May; 34(5): 984–989. Published online 2013 Jan 25. doi: 10.1093/carcin/bgt031

PMCID:: PMC3643423

Abstract Article PDF–1.2M

Select item 303570613.

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Holger Cario, Desirée E.C. Smith, Henk Blom, Nenad Blau, Harald Bode, Karlheinz Holzmann, Ulrich Pannicke, Karl-Peter Hopfner, Eva-Maria Rump, Zuleya Ayric, Elisabeth Kohne, Klaus-Michael Debatin, Yvo Smulders, Klaus Schwarz

Am J Hum Genet. 2011 Feb 11; 88(2): 226–231. doi: 10.1016/j.ajhg.2011.01.007

PMCID:: PMC3035706

Abstract Article PDF–382K

Select item 408647414.

S-Nitrosoglutathione Reductase Deficiency-Induced S-Nitrosylation Results in Neuromuscular Dysfunction

Costanza Montagna, Giuseppina Di Giacomo, Salvatore Rizza, Simone Cardaci, Elisabetta Ferraro, Paolo Grumati, Daniela De Zio, Emiliano Maiani, Carolina Muscoli, Filomena Lauro, Sara Ilari, Sergio Bernardini, Stefano Cannata, Cesare Gargioli, Maria R. Ciriolo, Francesco Cecconi, Paolo Bonaldo, Giuseppe Filomeni

Antioxid Redox Signal. 2014 Aug 1; 21(4): 570–587. doi: 10.1089/ars.2013.5696

PMCID:: PMC4086474

Abstract Article PDF–2.8M

Select item 430806315.

Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency

Mahoko Furujo, Masako Kinoshita, Yozo Ichiba, Anne Romstad, Haruo Shintaku, Toshihide Kubo

Epilepsy Behav Case Rep. 2014; 2: 37–39. Published online 2014 Mar 13. doi: 10.1016/j.ebcr.2014.01.007

PMCID:: PMC4308063

Abstract Article PDF–899K

Select item 454607816.

Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literature

Marco MC Cascella, Manuela MA Arcamone, Emanuela EM Morelli, Daniela DV Viscardi, Viera VR Russo, Silvia SDF De Franciscis, Andrea AB Belli, Rosanna RA Accardo, Domenico DC Caliendo, Elena EDL De Luca, Barbara BDC Di Caprio, Francesco FDS Di Sauro, Giovanni GG Giannoni, Carmine CI Iermano, Maria MM Maciariello, Marcella MM Marracino, Arturo AC Cuomo

J Med Case Rep. 2015; 9: 175. Published online 2015 Aug 20. doi: 10.1186/s13256-015-0662-0