E-LIB Suche - Ergebnisse für: Rumsby, Gill

1

Genetic assessment in primary hyperoxaluria: why it matters:

Mandrile, Giorgia ; Beck, Bodo ; Acquaviva, Cecile...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9842587/. , 2022

Link: http://www.ncbi.nlm.nih...

2

End Points for Clinical Trials in Primary Hyperoxaluria:

Milliner, Dawn S ; McGregor, Tracy L ; Thompson, Aliza...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341772/. , 2020

Link: http://www.ncbi.nlm.nih...

3

Plasma oxalate: comparison of methodologies:

Stokes, Felicity ; Acquaviva-Bourdain, Cecile ; Hoppe, Bernd...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666277/. , 2020

Link: http://www.ncbi.nlm.nih...

4

Next-Generation Sequencing Reveals Novel Genetic Variants (..:

Buonocore, Federica ; Clifford-Mobley, Oliver ; King, Tom F J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855215/. , 2019

Link: http://www.ncbi.nlm.nih...

5

Patients with primary hyperoxaluria type 2 have significant..:

Garrelfs, Sander S.F ; Rumsby, Gill ; Peters-Sengers, Hessel...
uri/info:doi/10.1016/j.kint.2019.08.018. , 2019

Link: http://hdl.handle.net/20..

6

Effects of alanine:glyoxylate aminotransferase variants and..:

Fargue, Sonia ; Knight, John ; Holmes, Ross P..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110007/. , 2016

Link: http://www.ncbi.nlm.nih...

7

Adrenal cancer in neurofibromatosis type 1: case report and..:

Menon, Ravi Kumar ; Ferrau, Francesco ; Kurzawinski, Tom R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...

8

Four of the Most Common Mutations in Primary Hyperoxaluria ..:

Fargue, Sonia ; Lewin, Jackie ; Rumsby, Gill.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554916. , 2013

Link: http://www.ncbi.nlm.nih...

9

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient i..:

Williams, Emma L ; Bockenhauer, Detlef ; van't Hoff, William G...
Williams , E L , Bockenhauer , D , van't Hoff , W G , Johri , N , Laing , C , Sinha , M , Unwin , R , Viljoen , A & Rumsby , G 2012 , ' The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3 ' , Nephrology, Dialysis, Transplantation , vol. 27 , no. 8 , pp. 3191-3195 . https://doi.org/10.1093/ndt/gfs039. , 2012

Link: https://kclpure.kcl.ac.u..

10

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient i..:

Williams, Emma L ; Bockenhauer, Detlef ; van't Hoff, William G...
Williams , E L , Bockenhauer , D , van't Hoff , W G , Johri , N , Laing , C , Sinha , M , Unwin , R , Viljoen , A & Rumsby , G 2012 , ' The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3 ' , Nephrology, Dialysis, Transplantation , vol. 27 , no. 8 , pp. 3191-3195 . https://doi.org/10.1093/ndt/gfs039. , 2012

Link: https://kclpure.kcl.ac.u..

11

Functional Consequences of Seven Novel Mutations in the CYP..:

Parajes, Silvia ; Loidi, Lourdes ; Reisch, Nicole...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846960. , 2010

Link: http://www.ncbi.nlm.nih...

12

Reconstruction of human hepatocyte glyoxylate metabolic pat..:

Behnam, Joseph T ; Williams, Emma L ; Brink, Susanne..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1408671. , 2006

Link: http://www.ncbi.nlm.nih...