Primary Hyperoxaluria von Cochat, Pierre, Rumsby, Gill

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Four of the Most Common Mutations in Primary Hyperoxaluria Type 1 Unmask the Cryptic Mitochondrial Targeting Sequence of Alanine:glyoxylate Aminotransferase Encoded by the Polymorp... von Fargue, Sonia, Lewin, Jackie, Rumsby, Gill, Danpure, Christopher J.

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Plasma oxalate: comparison of methodologies von Stokes, Felicity, Acquaviva-Bourdain, Cecile, Hoppe, Bernd, Lieske, John C., Lindner, Elisabeth, Toulson, Greg, Vaz, Frédéric M., Rumsby, Gill

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Genetic defects underlying renal stone disease von Rumsby, Gill

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Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias von RUMSBY, Gill, WILLIAMS, Emma, COULTER-MACKIE, Marion

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Oxalate Transport as Contributor to Primary Hyperoxaluria: The Jury Is Still Out von Rumsby, Gill, PhD, FRCPath

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Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2 von Cregeen, David P., Williams, Emma L., Hulton, Sally, Rumsby, Gill

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Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells von Behnam, Joseph T, Williams, Emma L, Brink, Susanne, Rumsby, Gill, Danpure, Christopher J

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Structural Basis of Substrate Specificity in Human Glyoxylate Reductase/Hydroxypyruvate Reductase von Booth, Michael P.S., Conners, R., Rumsby, Gill, Brady, R. Leo

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Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1 von Fargue, Sonia, Rumsby, Gill, Danpure, Christopher J.

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Genetic assessment in primary hyperoxaluria: why it matters von Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine, Groothoff, Jaap

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Genetic Prevalence Estimates for All Types of Primary Hyperoxaluria: FR-PO590 von Mandrile, Giorgia, Rumsby, Gill, Sciannameo, Veronica, Harris, Peter C., Lieske, John C., Glover, Michelle

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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment von COCHAT, Pierre, HULTON, Sally-Anne, JAMIESON, Neville V, KEMPER, Markus J, MANDRILE, Giorgia, MARANGELLA, Martino, PICCA, Stefano, RUMSBY, Gill, SALIDO, Eduardo, STRAUB, Michael, WOERDEN, Christiaan S. Van, ACQUAVIVA, Cecile, DANPURE, Christopher J, DAUDON, Michel, DE MARCHI, Mario, FARGUE, Sonia, GROOTHOFF, Jaap, HARAMBAT, Jerome, HOPPE, Bernd

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Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria von Clifford-Mobley, Oliver, Hewitt, Laura, Rumsby, Gill

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Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up von Garrelfs, Sander F., Rumsby, Gill, Peters-Sengers, Hessel, Erger, Florian, Groothoff, Jaap W., Beck, Bodo B., Oosterveld, Michiel J.S., Pelle, Alessandra, Neuhaus, Thomas, Adams, Brigitte, Cochat, Pierre, Salido, Eduardo, Lipkin, Graham W., Hoppe, Bernd, Hulton, Sally-Anne

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The comparability of oxalate excretion and oxalate:creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre von Clifford-Mobley, Oliver, Tims, Christopher, Rumsby, Gill

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End Points for Clinical Trials in Primary Hyperoxaluria von Milliner, Dawn S., McGregor, Tracy L., Thompson, Aliza, Dehmel, Bastian, Knight, John, Rosskamp, Ralf, Blank, Melanie, Yang, Sixun, Fargue, Sonia, Rumsby, Gill, Groothoff, Jaap, Allain, Meaghan, West, Melissa, Hollander, Kim, Lowther, W. Todd, Lieske, John C.

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Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type von Mandrile, Giorgia, van Woerden, Christiaan S., Berchialla, Paola, Beck, Bodo B., Acquaviva Bourdain, Cécile, Hulton, Sally-Anne, Rumsby, Gill

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Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope von Groothoff, Jaap W., Metry, Ella, Deesker, Lisa, Garrelfs, Sander, Acquaviva, Cecile, Almardini, Reham, Beck, Bodo B., Boyer, Olivia, Cerkauskiene, Rimante, Ferraro, Pietro Manuel, Groen, Luitzen A., Gupta, Asheeta, Knebelmann, Bertrand, Mandrile, Giorgia, Moochhala, Shabbir S., Prytula, Agnieszka, Putnik, Jovana, Rumsby, Gill, Soliman, Neveen A., Somani, Bhaskar, Bacchetta, Justine

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Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria von Clifford-Mobley, Oliver, Rumsby, Gill, Kanodia, Swati, Didi, Mohammed, Holt, Richard, Senniappan, Senthil

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