Zobrazeno 1 - 10
of 154
pro vyhledávání: '"Bodo B, Beck"'
Autor:
Elisabeth L. Metry, Sander F. Garrelfs, Hessel Peters-Sengers, Sally-Anne Hulton, Cecile Acquaviva, Justine Bacchetta, Bodo B. Beck, Laure Collard, Georges Deschênes, Casper Franssen, Markus J. Kemper, Graham W. Lipkin, Giorgia Mandrile, Nilufar Mohebbi, Shabbir H. Moochhala, Michiel J.S. Oosterveld, Larisa Prikhodina, Bernd Hoppe, Pierre Cochat, Jaap W. Groothoff
Publikováno v:
Kidney International Reports, Vol 7, Iss 2, Pp 210-220 (2022)
Introduction: In primary hyperoxaluria type 1 (PH1), oxalate overproduction frequently causes kidney stones, nephrocalcinosis, and kidney failure. As PH1 is caused by a congenital liver enzyme defect, combined liver–kidney transplantation (CLKT) ha
Externí odkaz:
https://doaj.org/article/b741147b79de4dfb83077c53198d2dea
Autor:
Marcin Tkaczyk, Katarzyna Gadomska-Prokop, Iga Załuska-Leśniewska, Kinga Musiał, Jan Zawadzki, Katarzyna Jobs, Tadeusz Porowski, Anna Rogowska-Kalisz, Anna Jander, Merit Kirolos, Adam Haliński, Aleksandra Krzemień, Aleksandra Sobieszczańska-Droździel, Katarzyna Zachwieja, Bodo B. Beck, Przemysław Sikora, Marcin Zaniew
Publikováno v:
Renal Failure, Vol 43, Iss 1, Pp 62-70 (2021)
Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1–2% of pediatric kidney stones. In this study, we sought to identify the clinical characteristics of patients with cy
Externí odkaz:
https://doaj.org/article/74cb39c276dc4727bfd2ec8659aa9cc3
Autor:
Florian Erger, Deborah Nörling, Domenica Borchert, Esther Leenen, Sandra Habbig, Michael S. Wiesener, Malte P. Bartram, Andrea Wenzel, Christian Becker, Mohammad R. Toliat, Peter Nürnberg, Bodo B. Beck, Janine Altmüller
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-14 (2020)
Abstract Cell-free DNA (cfDNA) analysis has become essential in cancer diagnostics and prenatal testing. We present cfNOMe, a two-in-one method of measuring cfDNA cytosine methylation and nucleosome occupancy in a single assay using non-disruptive en
Externí odkaz:
https://doaj.org/article/bb52488d1ce849fc9f9bf985ae8ef595
Autor:
Christoph Heinrich Lindemann, Andrea Wenzel, Florian Erger, Lea Middelmann, Julika Borde, Eric Hahnen, Denise Krauß, Simon Oehm, Sita Arjune, Polina Todorova, Kathrin Burgmaier, Max Christoph Liebau, Franziska Grundmann, Bodo B. Beck, Roman-Ulrich Müller
Publikováno v:
Kidney International Reports. 8:455-466
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency is characterized by autoimmunity, chronic diarrhea, and immunodeficiency. Minor renal manifestations have been found in a few patients, but kidney disease has n
Externí odkaz:
https://doaj.org/article/a667828b45b0463f8b9068035b687f51
Autor:
Rebeca Martinez-Turrillas, Saray Rodriguez-Diaz, Paula Rodriguez-Marquez, Angel Martin-Mallo, Eduardo Salido, Bodo B. Beck, Felipe Prosper, Juan R. Rodriguez-Madoz
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Abstract:: Primary Hyperoxaluria Type I (PH1) is a rare autosomal recessive metabolic disorder characterized by defects in enzymes involved in glyoxylate metabolism. PH1 is a life-threatening disease caused by the absence, deficiency or mistargeting
Externí odkaz:
https://doaj.org/article/f6ccc601669a415a8ab9edfb7627a06f
Autor:
Marcin Kołbuc, Beata Bieniaś, Sandra Habbig, Mateusz F. Kołek, Maria Szczepańska, Katarzyna Kiliś-Pstrusińska, Anna Wasilewska, Piotr Adamczyk, Rafał Motyka, Marcin Tkaczyk, Przemysław Sikora, Bodo B. Beck, Marcin Zaniew
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 15, p 3265 (2021)
Background: Hyperuricemia is recognized as an important feature of nephropathy, associated with a mutation in the hepatocyte nuclear factor-1B (HNF1B) gene, and could serve as a useful marker of the disease. However, neither a causal relationship nor
Externí odkaz:
https://doaj.org/article/43bec8533eb84032a0987465814f685f
Autor:
Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck, Roman-Ulrich Müller
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-12 (2017)
Abstract Background Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutation
Externí odkaz:
https://doaj.org/article/a4c7d074c4dd4744b817650dd1bc0c4a
Autor:
Lisa J. Deesker, Sander F. Garrelfs, Giorgia Mandrile, Michiel J.S. Oosterveld, Pierre Cochat, Georges Deschênes, Jérôme Harambat, Sally-Anne Hulton, Asheeta Gupta, Bernd Hoppe, Bodo B. Beck, Laure Collard, Rezan Topaloglu, Larisa Prikhodina, Eduardo Salido, Thomas Neuhaus, Jaap W. Groothoff, Justine Bacchetta
Publikováno v:
Kidney International Reports, 7(7), 1608-1618. Elsevier Inc.
Introduction: Infantile oxalosis is the most severe form of primary hyperoxaluria type 1 (PH1), with onset of end-stage kidney disease (ESKD) during infancy. We aimed to analyze the outcome of these patients as our current understanding is limited ow
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