TY - JOUR AU - Danpure, C. J. AU - Jennings, P. R. PY - 1986 DA - 1986// TI - Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I JO - FEBS Lett VL - 201 UR - https://doi.org/10.1016/0014-5793(86)80563-4 DO - 10.1016/0014-5793(86)80563-4 ID - Danpure1986 ER - TY - JOUR AU - Cregeen, D. P. AU - Williams, E. L. AU - Hulton, S. AU - Rumsby, G. PY - 2003 DA - 2003// TI - Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2 JO - Hum Mutat VL - 22 UR - https://doi.org/10.1002/humu.9200 DO - 10.1002/humu.9200 ID - Cregeen2003 ER - TY - JOUR AU - Belostotsky, R. AU - Seboun, E. AU - Idelson, G. H. AU - Milliner, D. S. AU - Becker-Cohen, R. AU - Rinat, C. AU - Monico, C. G. AU - Feinstein, S. AU - Ben-Shalom, E. AU - Magen, D. AU - Weissman, I. AU - Charon, C. AU - Frishberg, Y. PY - 2010 DA - 2010// TI - Mutations in DHDPSL are responsible for primary hyperoxaluria type III JO - Am J Hum Genet VL - 87 UR - https://doi.org/10.1016/j.ajhg.2010.07.023 DO - 10.1016/j.ajhg.2010.07.023 ID - Belostotsky2010 ER - TY - JOUR AU - Watts, R. W. E. PY - 1998 DA - 1998// TI - The clinical spectrum of the primary hyperoxalurias and their treatment JO - J Nephrol VL - 11 ID - Watts1998 ER - TY - JOUR AU - Danpure, C. J. AU - Jennings, P. R. AU - Fryer, P. AU - Purdue, P. E. AU - Allsop, J. PY - 1994 DA - 1994// TI - Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity JO - J Inherit Metab Dis VL - 17 UR - https://doi.org/10.1007/BF00711363 DO - 10.1007/BF00711363 ID - Danpure1994 ER - TY - JOUR AU - Cochat, P. AU - Deloraine, A. AU - Rotily, M. AU - Olive, F. AU - Liponski, I. AU - Deries, N. PY - 1995 DA - 1995// TI - Epidemiology of primary hyperoxaluria type 1 JO - Nephrol Dial Transplant VL - 10 UR - https://doi.org/10.1093/ndt/10.supp8.3 DO - 10.1093/ndt/10.supp8.3 ID - Cochat1995 ER - TY - JOUR AU - Latta, K. AU - Brodhel, J. PY - 1990 DA - 1990// TI - Primary hyperoxaluria type I JO - Eur J Pediatr VL - 149 UR - https://doi.org/10.1007/BF01957682 DO - 10.1007/BF01957682 ID - Latta1990 ER - TY - JOUR AU - Kamoun, A. AU - Lakhoua, R. PY - 1996 DA - 1996// TI - End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcome JO - Pediatr Nephrol VL - 10 UR - https://doi.org/10.1007/s004670050143 DO - 10.1007/s004670050143 ID - Kamoun1996 ER - TY - JOUR AU - Purdue, P. E. AU - Lumb, M. J. AU - Fox, M. AU - GriVo, G. AU - Hamon-Benais, C. AU - Povey, S. AU - Danpure, C. J. PY - 1991 DA - 1991// TI - Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase JO - Genomics VL - 10 UR - https://doi.org/10.1016/0888-7543(91)90481-S DO - 10.1016/0888-7543(91)90481-S ID - Purdue1991 ER - TY - JOUR AU - Nishiyama, K. AU - Funai, T. AU - Yokota, S. AU - Ichiyama, A. PY - 1993 DA - 1993// TI - ATP-dependent degradation of a mutant serine:pyruvate/alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1 case JO - J Cell Biol VL - 123 UR - https://doi.org/10.1083/jcb.123.5.1237 DO - 10.1083/jcb.123.5.1237 ID - Nishiyama1993 ER - TY - JOUR AU - Williams, E. L. AU - Acquaviva, C. AU - Amoroso, A. AU - Chevalier, F. AU - Coulter-Mackie, M. AU - Monico, C. G. AU - Giachino, D. AU - Owen, T. AU - Robbiano, A. AU - Salido, E. AU - Waterham, H. AU - Rumsby, G. PY - 2009 DA - 2009// TI - Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene JO - Hum Mutation VL - 30 UR - https://doi.org/10.1002/humu.21021 DO - 10.1002/humu.21021 ID - Williams2009 ER - TY - JOUR AU - Rumsby, G. AU - Williams, E. AU - Coulter-Mackie, M. PY - 2004 DA - 2004// TI - Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias JO - Kidney Int VL - 66 UR - https://doi.org/10.1111/j.1523-1755.2004.00842.x DO - 10.1111/j.1523-1755.2004.00842.x ID - Rumsby2004 ER - TY - JOUR AU - Miller, S. A. AU - Dykes, D. D. AU - Polesky, H. F. PY - 1988 DA - 1988// TI - A simple salting out procedure for extracting DNA from human nucleated cells JO - Nucleic Acids Res VL - 16 ID - Miller1988 ER - TY - JOUR AU - Coulter-Mackie, M. B. AU - Applegarth, D. AU - Toone, J. R. AU - Henderson, H. PY - 2004 DA - 2004// TI - The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1 JO - Mol Genet Metab VL - 82 UR - https://doi.org/10.1016/j.ymgme.2004.02.001 DO - 10.1016/j.ymgme.2004.02.001 ID - Coulter-Mackie2004 ER - TY - JOUR AU - Schnakenburg, C. V. AU - Rumsby, G. PY - 1997 DA - 1997// TI - Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene JO - J Med Genet VL - 34 UR - https://doi.org/10.1136/jmg.34.6.489 DO - 10.1136/jmg.34.6.489 ID - Schnakenburg1997 ER - TY - JOUR AU - Purdue, P. E. AU - Takada, Y. AU - Danpure, C. J. PY - 1990 DA - 1990// TI - Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1 JO - J Cell Biol VL - 111 UR - https://doi.org/10.1083/jcb.111.6.2341 DO - 10.1083/jcb.111.6.2341 ID - Purdue1990 ER - TY - JOUR AU - Chemli, J. AU - Abdennebi, H. AU - Zorgati, M. AU - Abdelhak, S. AU - Nabli, N. AU - Abroug, S. AU - Sfar, M. T. AU - Ben Dhia, N. AU - Amri, F. AU - Harbi, A. PY - 2003 DA - 2003// TI - Hyperoxalurie primitive chez l'enfant au centre tunisien JO - Tunis Med VL - 85 ID - Chemli2003 ER - TY - JOUR AU - Leumann, E. AU - Hope, B. PY - 2001 DA - 2001// TI - The primary hyperoxalurias JO - J Am Nephrol VL - 12 ID - Leumann2001 ER - TY - JOUR AU - AL-Eisa, A. A. AU - Samhan, M. AU - Naseef, M. PY - 2004 DA - 2004// TI - End-stage renal disease in Kuwaiti children: An 8-year experience JO - Transpl proc VL - 36 UR - https://doi.org/10.1016/j.transproceed.2004.07.024 DO - 10.1016/j.transproceed.2004.07.024 ID - AL-Eisa2004 ER - TY - JOUR AU - Rinat, C. AU - Wanders, R. AU - Drukker, A. AU - Halle, D. AU - Frishberg, Y. PY - 1999 DA - 1999// TI - Primary hyperoxaluria type 1: a model for multiple mutations in a monogenic disease within a distinct ethnic group JO - J Am Soc Nephrol VL - 10 ID - Rinat1999 ER - TY - JOUR AU - Madani, K. AU - Otoukesh, H. AU - Rastegar, A. AU - Van Why, S. PY - 2001 DA - 2001// TI - Chronic renal failure in Iranian children JO - Pediatr Nephrol VL - 16 UR - https://doi.org/10.1007/s004670000522 DO - 10.1007/s004670000522 ID - Madani2001 ER - TY - CHAP AU - Belhaj, R. AU - Hayder, N. AU - Gargueh, T. AU - Zorguati, M. AU - Marrakchi, O. AU - Abdelhak, S. AU - Lakhoua, R. AU - Abdelmoula, J. PY - 2009 DA - 2009// TI - Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases BT - Pathol Biol ID - Belhaj2009 ER - TY - JOUR AU - Kemper, M. J. PY - 2005 DA - 2005// TI - The role of preemptive liver transplantation in primary hyperoxaluria type 1 JO - Urol Res VL - 33 UR - https://doi.org/10.1007/s00240-005-0495-1 DO - 10.1007/s00240-005-0495-1 ID - Kemper2005 ER - TY - JOUR AU - Coulter-Mackie, M. B. AU - Lian, Q. AU - Applegarth, D. A. AU - Toone, J. AU - Waters, P. J. AU - Vallance, H. PY - 2008 DA - 2008// TI - Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results JO - Clin Biochem VL - 41 UR - https://doi.org/10.1016/j.clinbiochem.2008.01.018 DO - 10.1016/j.clinbiochem.2008.01.018 ID - Coulter-Mackie2008 ER - TY - JOUR AU - Tarn, A. C. AU - von Schnakenburg, C. AU - Rumsby, G. PY - 1997 DA - 1997// TI - Primary hyperoxaluria type 1: Diagnostic relevance of mutations and polymorphisms: in the alanine:glyoxylate aminotransferase gene (AGXT) JO - J Inherit Metab Dis VL - 20 UR - https://doi.org/10.1023/A:1005326510239 DO - 10.1023/A:1005326510239 ID - Tarn1997 ER - TY - JOUR AU - Santana, A. AU - Salido, E. AU - Torres, A. AU - Shapiro, L. J. PY - 2003 DA - 2003// TI - Primary hyperoxaluria type 1 in the Canary Islands JO - Proc Natl Acad Sci USA VL - 100 UR - https://doi.org/10.1073/pnas.1131968100 DO - 10.1073/pnas.1131968100 ID - Santana2003 ER - TY - JOUR AU - Flores, C. AU - Larruga, J. M. AU - González, A. M. AU - Hernández, M. AU - Pinto, F. AU - Cabrera, V. M. PY - 2001 DA - 2001// TI - The origin of the Canary Island aborigines and their contribution to the modern population: a molecular genetics perspective JO - Curr Anthropol VL - 42 UR - https://doi.org/10.1086/323819 DO - 10.1086/323819 ID - Flores2001 ER - TY - CHAP AU - Danpure, C. J. ED - Scriver, C. R. ED - Beaudet, A. L. ED - Sly, W. S. ED - Valle, D. PY - 2001 DA - 2001// TI - Primary hyperoxaluria BT - The metabolic and molecular bases of inherited disease PB - McGraw-Hill CY - New York ID - Danpure2001 ER - TY - CHAP AU - Pirulli, D. AU - Puzzer, D. AU - Ferri, L. AU - Crovella, S. AU - Amoroso, A. AU - Ferrettini, C. AU - Petrarulo, M. AU - Marangella, M. AU - Florian, F. PY - 1999 DA - 1999// TI - Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine:glyoxylate aminotransferase gene BT - Hum Genet ID - Pirulli1999 ER - TY - JOUR AU - Coulter-Mackie, M. B. AU - Rumsby, G. PY - 2004 DA - 2004// TI - Genetic heterogeneity in primary hyperoxaluria type 1: Impact on diagnosis JO - Mol Genet Metab VL - 83 UR - https://doi.org/10.1016/j.ymgme.2004.08.009 DO - 10.1016/j.ymgme.2004.08.009 ID - Coulter-Mackie2004 ER - TY - JOUR AU - Amoroso, A. AU - Pirulli, D. AU - Florian, F. AU - Puzzer, D. AU - Boniotto, M. AU - Crovella, S. AU - Zezlina, S. AU - Spano, A. AU - Mazzola, G. AU - Savoldi, S. AU - Ferrettini, C. AU - Berutti, S. AU - Petrarulo, M. AU - Marangella, M. PY - 2001 DA - 2001// TI - AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria JO - J Am Soc Nephrol VL - 12 ID - Amoroso2001 ER - TY - JOUR AU - Purdue, P. E. AU - Allsop, J. AU - Isaya, G. AU - Rosenberg, L. E. AU - Danpure, C. J. PY - 1991 DA - 1991// TI - Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation JO - Proc Natl Acad Sci VL - 88 UR - https://doi.org/10.1073/pnas.88.23.10900 DO - 10.1073/pnas.88.23.10900 ID - Purdue1991 ER - TY - JOUR AU - Danpure, C. J. AU - Purdue, P. E. AU - Fryer, P. AU - GriYths, S. AU - Allsop, J. AU - Lumb, M. J. AU - Guttridge, K. M. AU - Jennings, P. R. AU - Scheinman, J. I. AU - Mauer, S. M. AU - Davidson, N. O. PY - 1991 DA - 1991// TI - Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine: glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation JO - Am J HumGenet VL - 53 ID - Danpure1991 ER - TY - JOUR AU - Van Woerden, C. S. AU - Groothoff, J. W. AU - Wanders, R. J. AU - Davin, J. C. AU - Wijburg, F. A. PY - 2003 DA - 2003// TI - Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome JO - Nephrol Dial Transplant VL - 18 UR - https://doi.org/10.1093/ndt/18.2.273 DO - 10.1093/ndt/18.2.273 ID - Van Woerden2003 ER - TY - JOUR AU - Monico, C. G. AU - Rossetti, S. AU - Olson, J. B. AU - Milliner, D. S. PY - 2005 DA - 2005// TI - Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele JO - Kidney Int VL - 67 UR - https://doi.org/10.1111/j.1523-1755.2005.00267.x DO - 10.1111/j.1523-1755.2005.00267.x ID - Monico2005 ER - TY - JOUR AU - Jamieson, N. V. PY - 1998 DA - 1998// TI - The results of combined liver/kidney transplantation for primary hyperoxaluria (PH1) 1984-1997. The European PH1 transplants registry report. European PH1 Transplantation Study Group JO - J Nephrol VL - 11 ID - Jamieson1998 ER - TY - JOUR AU - Millan, M. T. AU - Berquist, W. E. AU - So, S. K. PY - 2003 DA - 2003// TI - One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: a single-center experience JO - Transplantation VL - 76 UR - https://doi.org/10.1097/01.TP.0000084203.76110.AC DO - 10.1097/01.TP.0000084203.76110.AC ID - Millan2003 ER - TY - JOUR AU - Bobrowski, A. AU - Langman, C. PY - 2008 DA - 2008// TI - The primary hyperoxalurias JO - Semin Nephrol VL - 28 UR - https://doi.org/10.1016/j.semnephrol.2008.01.008 DO - 10.1016/j.semnephrol.2008.01.008 ID - Bobrowski2008 ER - TY - STD TI - The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2369/12/25/prepub UR - http://www.biomedcentral.com/1471-2369/12/25/prepub ID - ref39 ER -