Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Gill Rumsby"'
Autor:
Jaap W. Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, Reham Almardini, Bodo B. Beck, Olivia Boyer, Rimante Cerkauskiene, Pietro Manuel Ferraro, Luitzen A. Groen, Asheeta Gupta, Bertrand Knebelmann, Giorgia Mandrile, Shabbir S. Moochhala, Agnieszka Prytula, Jovana Putnik, Gill Rumsby, Neveen A. Soliman, Bhaskar Somani, Justine Bacchetta
Publikováno v:
Nature reviews. Nephrology, 19(3), 194-211. Nature Publishing Group
Nat Rev Nephrol
ISSN
Nat Rev Nephrol
ISSN
Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f447c83d0936f643cfc69826ac7d26
https://pure.amc.nl/en/publications/clinical-practice-recommendations-for-primary-hyperoxaluria(ab09f0b8-3434-4c08-918c-81ddf53300b3).html
https://pure.amc.nl/en/publications/clinical-practice-recommendations-for-primary-hyperoxaluria(ab09f0b8-3434-4c08-918c-81ddf53300b3).html
Autor:
Cecile Acquaviva-Bourdain, Bernd Hoppe, John C. Lieske, Frédéric M. Vaz, Felicity Stokes, Gill Rumsby, Elisabeth Lindner, Greg Toulson
Publikováno v:
Urolithiasis
Urolithiasis, 48(6), 473-480. Springer Verlag
Urolithiasis, 48(6), 473-480. Springer Verlag
Measurement of oxalate in the blood is essential for monitoring primary hyperoxaluria patients with progressive renal impairment and on dialysis prior to transplantation. As no external quality assurance scheme is available for this analyte, we condu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb0423d7085833400d63c1606ea1e4ef
http://europepmc.org/articles/PMC7666277
http://europepmc.org/articles/PMC7666277
Autor:
Detlef Bockenhauer, John C. Achermann, Michal Ajzensztejn, Norman F. Taylor, Charu Deshpande, Senthil Senniappan, Henry Morgan, Gill Rumsby, Dinesh Giri
Publikováno v:
Hormone Research in Paediatrics. 93:137-142
Introduction: We present a patient with co-existence of 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency and Bartter syndrome, a unique dual combination of opposing pathologies that has not been reported previously in the literature. Case:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62abb6fda52e0294c7a55b55ed063194
https://doi.org/10.1159/000507577
https://doi.org/10.1159/000507577
Publikováno v:
Primer on Nephrology ISBN: 9783030764180
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45addd3814723f942c2aa87d2cf6ab28
https://doi.org/10.1007/978-3-030-76419-7_64
https://doi.org/10.1007/978-3-030-76419-7_64
Autor:
Jenifer P. Suntharalingham, Ignacio del Valle, John C. Achermann, Gerard S. Conway, Elim Man, Niccolo Striglioni, Gill Rumsby, Federica Buonocore, Lin Lin, Thomas F J King, Oliver Clifford-Mobley, Carlos F. Lagos
Publikováno v:
Journal of the Endocrine Society
Context The genetic basis of human sex development is slowly being elucidated, and >40 different genetic causes of differences (or disorders) of sex development (DSDs) have now been reported. However, reaching a specific diagnosis using traditional a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2c9d00d4d64b1564a0c54efbdaf451
http://europepmc.org/articles/PMC6855215
http://europepmc.org/articles/PMC6855215
Autor:
Gill Rumsby, Sally-Anne Hulton
Publikováno v:
Expert Opinion on Orphan Drugs. 7:57-66
Introduction: The primary hyperoxalurias are inherited disorders of endogenous oxalate overproduction, that can result in renal failure and systemic oxalosis with potentially fatal outcome. The pre...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2a610b64c4d961d92e97eb1fb02672b
https://doi.org/10.1080/21678707.2019.1571905
https://doi.org/10.1080/21678707.2019.1571905
Basis of gene structure and function, Farrow S.M. Molecular analysis of gene structure and function, Brickell P.M. Mechanism of action of peptide hormones, Barker S. Steroid hormone superfamily of receptors, Chatterjee V.K.K., Clifton-Bligh R.J. and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0ca6de826b1565be8734e1f286f4561
https://doi.org/10.1201/9781003076926
https://doi.org/10.1201/9781003076926
Autor:
Gill Rumsby
Publikováno v:
Molecular Endocrinology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59d12e87f53c021b044dd6213c953067
https://doi.org/10.1201/9781003076926-8
https://doi.org/10.1201/9781003076926-8
Autor:
John Knight, Dawn S. Milliner, Melissa West, Melanie Blank, W. Todd Lowther, Gill Rumsby, Jaap W. Groothoff, Meaghan Allain, Tracy L. McGregor, Kim Hollander, John C. Lieske, Ralf Rosskamp, Aliza Thompson, Sonia Fargue, Sixun Yang, Bastian Dehmel
Publikováno v:
Clinical journal of the American Society of Nephrology, 15(7), 1056-1065. American Society of Nephrology
Patients with primary hyperoxaluria experience kidney stones from a young age and can develop progressive oxalate nephropathy. Progression to kidney failure often develops over a number of years, and is associated with systemic oxalosis, intensive di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85160b23ac6d254298577c4cd96d19aa
https://pure.amc.nl/en/publications/end-points-for-clinical-trials-in-primary-hyperoxaluria(aeec861f-276f-4e74-902b-f826aee4e73a).html
https://pure.amc.nl/en/publications/end-points-for-clinical-trials-in-primary-hyperoxaluria(aeec861f-276f-4e74-902b-f826aee4e73a).html
Publikováno v:
Clinical Chemistry. 64:1586-1595
BACKGROUND Urine steroid profiles are used in clinical practice for the diagnosis and monitoring of disorders of steroidogenesis and adrenal pathologies. Machine learning (ML) algorithms are powerful computational tools used extensively for the recog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cddbb71e70084c2358baddee4d2f9913
https://doi.org/10.1373/clinchem.2018.292201
https://doi.org/10.1373/clinchem.2018.292201