Journal articles on the topic 'Primary Hyperoxaluria Type I (PHI)'
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Knight, John, Ross P. Holmes, Scott D. Cramer, Tatsuya Takayama, and Eduardo Salido. "Hydroxyproline metabolism in mouse models of primary hyperoxaluria." American Journal of Physiology-Renal Physiology 302, no. 6 (March 15, 2012): F688—F693. http://dx.doi.org/10.1152/ajprenal.00473.2011.
Full textDanpure, Christopher J., and Gill Rumsby. "Molecular aetiology of primary hyperoxaluria and its implications for clinical management." Expert Reviews in Molecular Medicine 6, no. 1 (January 9, 2004): 1–16. http://dx.doi.org/10.1017/s1462399404007203.
Full textBrooks, Ellen R., Bernd Hoppe, Dawn S. Milliner, Eduardo Salido, John Rim, Leah M. Krevitt, Julie B. Olson, Heather E. Price, Gulsah Vural, and Craig B. Langman. "Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria." American Journal of Nephrology 43, no. 4 (2016): 293–303. http://dx.doi.org/10.1159/000445448.
Full textHatch, Marguerite, Altin Gjymishka, Eduardo C. Salido, Milton J. Allison, and Robert W. Freel. "Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization withOxalobacter." American Journal of Physiology-Gastrointestinal and Liver Physiology 300, no. 3 (March 2011): G461—G469. http://dx.doi.org/10.1152/ajpgi.00434.2010.
Full textShah, Chintan G., Alpana J. Ohri, and Amish H. Udani. "Primary Hyperoxaluria Type 1: A great masquerader." Wadia Journal of Women and Child Health 1 (July 1, 2022): 13–17. http://dx.doi.org/10.25259/wjwch_2022_05.
Full textGarrelfs, Sander F., Dewi van Harskamp, Hessel Peters-Sengers, Chris H. P. van den Akker, Ronald J. A. Wanders, Frits A. Wijburg, Johannes B. van Goudoever, Jaap W. Groothoff, Henk Schierbeek, and Michiel J. S. Oosterveld. "Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients." Journal of the American Society of Nephrology 32, no. 12 (October 22, 2021): 3175–86. http://dx.doi.org/10.1681/asn.2021060729.
Full textDanpure, Christopher J., and Patricia R. Jennings. "Further studies on the activity and subcellular distribution of alanine: Glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1." Clinical Science 75, no. 3 (September 1, 1988): 315–22. http://dx.doi.org/10.1042/cs0750315.
Full textLin, Jin-ai, Xin Liao, Wenlin Wu, Lixia Xiao, Longshan Liu, and Jiang Qiu. "Clinical analysis of 13 children with primary hyperoxaluria type 1." Urolithiasis 49, no. 5 (March 15, 2021): 425–31. http://dx.doi.org/10.1007/s00240-021-01249-3.
Full textHasan, Asma, Sharon Maynard, Dominick Santoriello, and Henry Schairer. "Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report." Case Reports in Nephrology and Dialysis 8, no. 3 (October 4, 2018): 223–29. http://dx.doi.org/10.1159/000493091.
Full textAl Riyami, Mohamed S., Badria Al Ghaithi, Nadia Al Hashmi, and Naifain Al Kalbani. "Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome." International Journal of Nephrology 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/634175.
Full textLetko, Anna, Reinie Dijkman, Ben Strugnell, Irene M. Häfliger, Julia M. Paris, Katrina Henderson, Tim Geraghty, Hannah Orr, Sandra Scholes, and Cord Drögemüller. "Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep." Genes 11, no. 10 (September 29, 2020): 1147. http://dx.doi.org/10.3390/genes11101147.
Full textQingqi, Ren, Ju Weiqiang, Wang Dongping, Guo Zhiyong, Chen Maogen, and He Xiaoshun. "Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria." Journal of Nepal Medical Association 56, no. 205 (March 31, 2017): 175–78. http://dx.doi.org/10.31729/jnma.2671.
Full textMorgan, S. H., C. J. Danpure, M. R. Bending, and A. J. Eisinger. "Exclusion of Primary Hyperoxaluria Type I (PHI) in End-Stage Renal Failure by Enzymatic Analysis of a Percutaneous Hepatic Biopsy." Nephron 55, no. 3 (1990): 336–37. http://dx.doi.org/10.1159/000185987.
Full textHameed, Mohammed, Kashif Eqbal, Beena Nair, Alexander Woywodt, and Aimun Ahmed. "Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow!" Nephrology @ Point of Care 1, no. 1 (January 2015): napoc.2015.1467. http://dx.doi.org/10.5301/napoc.2015.14679.
Full textAMOROSO, ANTONIO, DOROTI PIRULLI, FIORELLA FLORIAN, DANIELA PUZZER, MICHELE BONIOTTO, SERGIO CROVELLA, SILVIA ZEZLINA, et al. "AGXTGene Mutations and Their Influence on Clinical Heterogeneity of Type 1 Primary Hyperoxaluria." Journal of the American Society of Nephrology 12, no. 10 (October 2001): 2072–79. http://dx.doi.org/10.1681/asn.v12102072.
Full textWong, Ping-Nam, Eric L. K. Law, Gensy M. W. Tong, Siu-Ka Mak, Kin-Yee Lo, and Andrew K. M. Wong. "Diagnosis of Primary Hyperoxaluria Type 1 by Determination of Peritoneal Dialysate Glycolic Acid Using Standard Organic-Acids Analysis Method." Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 23, no. 2_suppl (December 2003): 210–13. http://dx.doi.org/10.1177/089686080302302s44.
Full textVanmassenhove, Jill, Raymond Vanholder, Ramses Forsyth, and Annemieke Dhondt. "Encapsulating Peritoneal Sclerosis in a Patient with Primary Hyperoxaluria Type 1: A Case Report." Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 30, no. 1 (January 2010): 108–11. http://dx.doi.org/10.3747/pdi.2008.00269.
Full textWang, Xinsheng, Xiangzhong Zhao, Xiaoling Wang, Jian Yao, Feifei Zhang, Yanhua Lang, Sylvie Tuffery-Giraud, Irene Bottillo, and Leping Shao. "Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3." American Journal of Nephrology 42, no. 1 (2015): 78–84. http://dx.doi.org/10.1159/000439232.
Full textWorcester, Elaine M., Andrew P. Evan, Fredric L. Coe, James E. Lingeman, Amy Krambeck, Andre Sommers, Carrie L. Phillips, and Dawn Milliner. "A test of the hypothesis that oxalate secretion produces proximal tubule crystallization in primary hyperoxaluria type I." American Journal of Physiology-Renal Physiology 305, no. 11 (December 1, 2013): F1574—F1584. http://dx.doi.org/10.1152/ajprenal.00382.2013.
Full textCooper, P. J., C. J. Danpure, P. J. Wise, and K. M. Guttridge. "Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1." Journal of Histochemistry & Cytochemistry 36, no. 10 (October 1988): 1285–94. http://dx.doi.org/10.1177/36.10.3418107.
Full textHou, Shurong, Franck Madoux, Louis Scampavia, Jo Ann Janovick, P. Michael Conn, and Timothy P. Spicer. "Drug Library Screening for the Identification of Ionophores That Correct the Mistrafficking Disorder Associated with Oxalosis Kidney Disease." SLAS DISCOVERY: Advancing the Science of Drug Discovery 22, no. 7 (January 31, 2017): 887–96. http://dx.doi.org/10.1177/2472555217689992.
Full textDindo, Mirco, Silvia Grottelli, Giannamaria Annunziato, Giorgio Giardina, Marco Pieroni, Gioena Pampalone, Andrea Faccini, et al. "Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1." Biochemical Journal 476, no. 24 (December 20, 2019): 3751–68. http://dx.doi.org/10.1042/bcj20190507.
Full textPoyah, Penelope, Joel Bergman, Laurette Geldenhuys, Glenda Wright, Noreen M. Walsh, Peter Hull, Kristina Roche, and Michael L. West. "Primary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report." Canadian Journal of Kidney Health and Disease 8 (January 2021): 205435812110589. http://dx.doi.org/10.1177/20543581211058931.
Full textFargue, Sonia, Dawn S. Milliner, John Knight, Julie B. Olson, W. Todd Lowther, and Ross P. Holmes. "Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria." Journal of the American Society of Nephrology 29, no. 6 (March 27, 2018): 1615–23. http://dx.doi.org/10.1681/asn.2017040390.
Full textDanpure, C. J., P. J. Cooper, P. J. Wise, and P. R. Jennings. "An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria." Journal of Cell Biology 108, no. 4 (April 1, 1989): 1345–52. http://dx.doi.org/10.1083/jcb.108.4.1345.
Full textWang, Wenying, Yi Liu, Lulu Kang, Ruxuan He, Jinqing Song, Yanhan Li, Jun Li, and Yanling Yang. "Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population." Kidney and Blood Pressure Research 44, no. 4 (2019): 743–53. http://dx.doi.org/10.1159/000501458.
Full textPurdue, P. E., Y. Takada, and C. J. Danpure. "Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1." Journal of Cell Biology 111, no. 6 (December 1, 1990): 2341–51. http://dx.doi.org/10.1083/jcb.111.6.2341.
Full textHuang, Amadeus, Julia Burke, Richard D. Bunker, Yee-Foong Mok, Michael D. Griffin, Edward N. Baker, and Kerry M. Loomes. "Regulation of human 4-hydroxy-2-oxoglutarate aldolase by pyruvate and α-ketoglutarate: implications for primary hyperoxaluria type-3." Biochemical Journal 476, no. 21 (November 15, 2019): 3369–83. http://dx.doi.org/10.1042/bcj20190548.
Full textWilliams, Emma, and Gill Rumsby. "Selected Exonic Sequencing of the AGXT Gene Provides a Genetic Diagnosis in 50% of Patients with Primary Hyperoxaluria Type 1." Clinical Chemistry 53, no. 7 (July 1, 2007): 1216–21. http://dx.doi.org/10.1373/clinchem.2006.084434.
Full textDonini, Stefano, Manuela Ferrari, Chiara Fedeli, Marco Faini, Ilaria Lamberto, Ada Serena Marletta, Lara Mellini, et al. "Recombinant production of eight human cytosolic aminotransferases and assessment of their potential involvement in glyoxylate metabolism." Biochemical Journal 422, no. 2 (August 13, 2009): 265–72. http://dx.doi.org/10.1042/bj20090748.
Full textNishiyama, K., T. Funai, S. Yokota, and A. Ichiyama. "ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case." Journal of Cell Biology 123, no. 5 (December 1, 1993): 1237–48. http://dx.doi.org/10.1083/jcb.123.5.1237.
Full textWebster, Kylie E., Patrick M. Ferree, Ross P. Holmes, and Scott D. Cramer. "Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)." Human Genetics 107, no. 2 (August 2000): 176–85. http://dx.doi.org/10.1007/s004390000351.
Full textLeiper, J. M., P. B. Oatey, and C. J. Danpure. "Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1." Journal of Cell Biology 135, no. 4 (November 15, 1996): 939–51. http://dx.doi.org/10.1083/jcb.135.4.939.
Full textGiafi, C. F., and G. Rumsby. "Kinetic Analysis and Tissue Distribution of Human D-Glycerate Dehydrogenase/Glyoxylate Reductase and its Relevance to the Diagnosis of Primary Hyperoxaluria Type 2." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 35, no. 1 (January 1998): 104–9. http://dx.doi.org/10.1177/000456329803500114.
Full textDanese, D., R. Murray, A. Monpara, R. Ben-David, T. Crockett, M. Holloway, K. Barr, S. Doyle, and K. Howie. "The Importance of evaluating for potential underlying causes of kidney stones: A survey of physician experiences in diagnosing Primary Hyperoxaluria type 1 (PH1)." European Urology Supplements 18, no. 7 (October 2019): e2796. http://dx.doi.org/10.1016/s1569-9056(19)32989-6.
Full textNeira, Jose L., Athi N. Naganathan, Noel Mesa-Torres, Eduardo Salido, and Angel L. Pey. "Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants." Molecules 27, no. 24 (December 10, 2022): 8762. http://dx.doi.org/10.3390/molecules27248762.
Full textDindo, Mirco, Giulia Ambrosini, Elisa Oppici, Angel L. Pey, Peter J. O’Toole, Joanne L. Marrison, Ian E. G. Morrison, et al. "Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting." Journal of Personalized Medicine 11, no. 4 (April 6, 2021): 273. http://dx.doi.org/10.3390/jpm11040273.
Full textMotley, A., M. J. Lumb, P. B. Oatey, P. R. Jennings, P. A. De Zoysa, R. J. Wanders, H. F. Tabak, and C. J. Danpure. "Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1." Journal of Cell Biology 131, no. 1 (October 1, 1995): 95–109. http://dx.doi.org/10.1083/jcb.131.1.95.
Full textMartinez-Turrillas, Rebeca, Saray Rodriguez-Diaz, Paula Rodriguez-Marquez, Angel Martin-Mallo, Eduardo Salido, Bodo B. Beck, Felipe Prosper, and Juan R. Rodriguez-Madoz. "Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene." Stem Cell Research 41 (December 2019): 101626. http://dx.doi.org/10.1016/j.scr.2019.101626.
Full textRINAT, CHONI, RONALD J. A. WANDERS, ALFRED DRUKKER, DAVID HALLE, and YAACOV FRISHBERG. "Primary Hyperoxaluria Type I." Journal of the American Society of Nephrology 10, no. 11 (November 1999): 2352–58. http://dx.doi.org/10.1681/asn.v10112352.
Full textQuan, Kara J., and Lee A. Biblo. "Type I Primary Hyperoxaluria." Cardiology in Review 11, no. 6 (November 2003): 318–19. http://dx.doi.org/10.1097/01.crd.0000065421.50549.21.
Full textCochat, Pierre. "Primary hyperoxaluria type 1." Kidney International 55, no. 6 (June 1999): 2533–47. http://dx.doi.org/10.1046/j.1523-1755.1999.00477.x.
Full textBastani, Bahar, and George Nahass. "Type I Primary Hyperoxaluria." New England Journal of Medicine 341, no. 26 (December 23, 1999): 1979. http://dx.doi.org/10.1056/nejm199912233412605.
Full textAjzensztejn, M. J., N. J. Sebire, R. S. Trompeter, and S. D. Marks. "Primary hyperoxaluria type 1." Archives of Disease in Childhood 92, no. 3 (March 1, 2007): 197. http://dx.doi.org/10.1136/adc.2006.107334.
Full textLatta, K., and J. Brodehl. "Primary hyperoxaluria type I." European Journal of Pediatrics 149, no. 8 (May 1990): 518–22. http://dx.doi.org/10.1007/bf01957682.
Full textMansell, M. A. "Primary hyperoxaluria type 2." Nephrology Dialysis Transplantation 10, supp8 (January 1, 1995): 58–60. http://dx.doi.org/10.1093/ndt/10.supp8.58.
Full textAbukhatwah, Mohamed W., Samia H. Almalki, Mohammed S. Althobaiti, Abdulla O. Alharbi, Najla K. Almalki, and Naglaa M. Kamal. "Primary hyperoxaluria Type 1." Medicine 99, no. 25 (June 19, 2020): e20371. http://dx.doi.org/10.1097/md.0000000000020371.
Full textKemper, M. J., S. Conrad, and D. E. Müller-Wiefel. "Primary hyperoxaluria type 2." European Journal of Pediatrics 156, no. 7 (June 26, 1997): 509–12. http://dx.doi.org/10.1007/s004310050649.
Full textHarambat, Jérôme, Sonia Fargue, Justine Bacchetta, Cécile Acquaviva, and Pierre Cochat. "Primary Hyperoxaluria." International Journal of Nephrology 2011 (2011): 1–11. http://dx.doi.org/10.4061/2011/864580.
Full textRao, Neal M., Anil Yallapragada, Kellen D. Winden, Jeffrey Saver, and David S. Liebeskind. "Stroke in Primary Hyperoxaluria Type I." Journal of Neuroimaging 24, no. 4 (April 2, 2013): 411–13. http://dx.doi.org/10.1111/jon.12020.
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