Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Genetic assessment in primary hyperoxaluria: why it matters.

Mandrile, Giorgia; Beck, Bodo; Acquaviva, Cecile; Rumsby, Gill; Deesker, Lisa; Garrelfs, Sander; Gupta, Asheeta; Bacchetta, Justine; Groothoff, Jaap.

Pediatr Nephrol ; 38(3): 625-634, 2023 03.

Artigo em Inglês | MEDLINE | ID: mdl-35695965

2.

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.

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.

Kidney Int ; 96(6): 1389-1399, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31685312

3.

Using Machine Learning to Aid the Interpretation of Urine Steroid Profiles.

Wilkes, Edmund H; Rumsby, Gill; Woodward, Gary M.

Clin Chem ; 64(11): 1586-1595, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-30097499

4.

Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.

Fargue, Sonia; Knight, John; Holmes, Ross P; Rumsby, Gill; Danpure, Christopher J.

Biochim Biophys Acta ; 1862(6): 1055-62, 2016 06.

Artigo em Inglês | MEDLINE | ID: mdl-26854734

5.

Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria.

Clifford-Mobley, Oliver; Rumsby, Gill; Kanodia, Swati; Didi, Mohammed; Holt, Richard; Senniappan, Senthil.

Pediatr Nephrol ; 32(11): 2159-2163, 2017 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-28752386

6.

Biochemical composition of urolithiasis from stone dust - a matched-pair analysis.

Ray, Eleanor R; Rumsby, Gill; Smith, R Daron.

BJU Int ; 118(4): 618-24, 2016 10.

Artigo em Inglês | MEDLINE | ID: mdl-26917210

7.

Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.

Fargue, Sonia; Lewin, Jackie; Rumsby, Gill; Danpure, Christopher J.

J Biol Chem ; 288(4): 2475-84, 2013 Jan 25.

Artigo em Inglês | MEDLINE | ID: mdl-23229545

8.

Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.

Fargue, Sonia; Rumsby, Gill; Danpure, Christopher J.

Biochim Biophys Acta ; 1832(10): 1776-83, 2013 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-23597595

9.

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

Mandrile, Giorgia; van Woerden, Christiaan S; Berchialla, Paola; Beck, Bodo B; Acquaviva Bourdain, Cécile; Hulton, Sally-Anne; Rumsby, Gill.

Kidney Int ; 86(6): 1197-204, 2014 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-24988064

10.

Case 205: renal stone ileus.

MacDonald, Lois S; Rumsby, Gill; Lapsia, Snehal.

Radiology ; 271(2): 615-8, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24761958

11.

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.

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.

Nat Rev Nephrol ; 19(3): 194-211, 2023 03.

Artigo em Inglês | MEDLINE | ID: mdl-36604599

12.

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

Williams, Emma L; Bockenhauer, Detlef; van't Hoff, William G; Johri, Nikhil; Laing, Chris; Sinha, Manish D; Unwin, Robert; Viljoen, Adie; Rumsby, Gill.

Nephrol Dial Transplant ; 27(8): 3191-5, 2012 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-22391140

13.

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

Cochat, Pierre; Hulton, Sally-Anne; Acquaviva, Cécile; Danpure, Christopher J; Daudon, Michel; De Marchi, Mario; Fargue, Sonia; Groothoff, Jaap; Harambat, Jérôme; Hoppe, Bernd; Jamieson, Neville V; Kemper, Markus J; Mandrile, Giorgia; Marangella, Martino; Picca, Stefano; Rumsby, Gill; Salido, Eduardo; Straub, Michael; van Woerden, Christiaan S.

Nephrol Dial Transplant ; 27(5): 1729-36, 2012 May.

Artigo em Inglês | MEDLINE | ID: mdl-22547750

14.

Primary hyperoxaluria.

Rumsby, Gill; Cochat, Pierre.

N Engl J Med ; 369(22): 2163, 2013 11 28.

Artigo em Inglês | MEDLINE | ID: mdl-24283239

15.

Primary hyperoxaluria.

Cochat, Pierre; Rumsby, Gill.

N Engl J Med ; 369(7): 649-58, 2013 Aug 15.

Artigo em Inglês | MEDLINE | ID: mdl-23944302

16.

Plasma oxalate: comparison of methodologies.

Stokes, Felicity; Acquaviva-Bourdain, Cecile; Hoppe, Bernd; Lieske, John C; Lindner, Elisabeth; Toulson, Greg; Vaz, Frédéric M; Rumsby, Gill.

Urolithiasis ; 48(6): 473-480, 2020 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-32472220

17.

Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.

Giri, Dinesh; Bockenhauer, Detlef; Deshpande, Charu; Achermann, John C; Taylor, Norman F; Rumsby, Gill; Morgan, Henry; Senniappan, Senthil; Ajzensztejn, Michal.

Horm Res Paediatr ; 93(2): 137-142, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-32506065

18.

End Points for Clinical Trials in Primary Hyperoxaluria.

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.

Clin J Am Soc Nephrol ; 15(7): 1056-1065, 2020 07 01.

Artigo em Inglês | MEDLINE | ID: mdl-32165440

19.

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Williams, Emma L; Acquaviva, Cecile; Amoroso, Antonio; Chevalier, Francoise; Coulter-Mackie, Marion; Monico, Carla G; Giachino, Daniela; Owen, Tricia; Robbiano, Angela; Salido, Eduardo; Waterham, Hans; Rumsby, Gill.

Hum Mutat ; 30(6): 910-7, 2009 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-19479957

20.

Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.

Price, Karen L; Hulton, Sally-Anne; van't Hoff, William G; Masters, John R; Rumsby, Gill.

Urol Res ; 37(3): 127-32, 2009 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-19283374

Portal de Pesquisa da BVS Enfermagem

Informação e Conhecimento para a Saúde

Configurar filtros

Sua seleção (0)

Formato de exportação:

Exportar:

Genetic assessment in primary hyperoxaluria: why it matters.

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.

Using Machine Learning to Aid the Interpretation of Urine Steroid Profiles.

Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.

Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria.

Biochemical composition of urolithiasis from stone dust - a matched-pair analysis.

Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.

Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

Case 205: renal stone ileus.

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

Primary hyperoxaluria.

Primary hyperoxaluria.

Plasma oxalate: comparison of methodologies.

Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.

End Points for Clinical Trials in Primary Hyperoxaluria.

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.