Publications by authors named "Bodo B Beck"

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New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J Castelbón, Javier Tomás Solera, Bodo B Beck

J Intern Med· January 2026

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Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Florian Buerger, Daanya Salmanullah, Lorrin Liang, Victoria Gauntner, Kavita Krueger, Bodo B Beck

Nat Commun· November 2025

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Novel Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.
Anastasia Adella, François Jouret, Leire Madariaga, Pieter A Leermakers, Pedro Arango, Bodo B Beck

Kidney Int Rep· October 2025

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Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene.
Christian Betz, Björn Reusch, Thomas Langmann, Sandra Habbig, Bodo B Beck

HGG Adv· July 2025

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C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.
Rajindra P Aryal, Aditya Ramanujan, Camille Bucci, Christian Neckelmann, Jamie Heimburg-Molinaro, Bodo B Beck

J Inherit Metab Dis· March 2025

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Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.
Bernd Hoppe, Cristina Martin-Higueras, Lodovica Borghese, Sophie Kaspar, Björn Reusch, Bodo B Beck

Kidney Int Rep· January 2025

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[Genetics in nephrology - any news?].
Malte P Bartram, Bodo B Beck, Roman-Ulrich Müller

Dtsch Med Wochenschr· November 2024

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Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.
Lisa J Deesker, Hazal A Karacoban, Elisabeth L Metry, Sander F Garrelfs, Justine Bacchetta, Bodo B Beck

Kidney Int Rep· October 2024

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Erratum to "Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition" [ Volume 9, Issue 4, April 2024, Pages 919-928].
Jessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, Jan Hinrich Bräsen, Constantin von Kaisenberg, Bodo B Beck

Kidney Int Rep· October 2024

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Cosmc regulates O-glycan extension in murine hepatocytes.
Rajindra P Aryal, Maxence Noel, Junwei Zeng, Yasuyuki Matsumoto, Rachael Sinard, Bodo B Beck

Glycobiology· August 2024

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Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage.
Jessica K Kaufeld, Ulf Schönermarck, Lucas Kühne, Jan Hinrich Bräsen, Constantin von Kaisenberg, Bodo B Beck

Kidney Int Rep· July 2024

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Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Marcin Kołbuc, Mateusz F Kołek, Rafał Motyka, Beata Bieniaś, Sandra Habbig, Bodo B Beck

Pediatr Nephrol· June 2024

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Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition.
Jessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, Jan Hinrich Bräsen, Constantin von Kaisenberg, Bodo B Beck

Kidney Int Rep· April 2024

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Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.
Martin Kömhoff, Valentina Gracchi, Henry Dijkman, Bodo B Beck, Leo Monnens

Pediatr Nephrol· January 2024

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Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.
Cristina Martin-Higueras, Lodovica Borghese, Armando Torres, Fátima Fraga-Bilbao, Raquel Santana-Estupiñán, Bodo B Beck

Kidney Int Rep· January 2024

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Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Elisabeth L Metry, Sander F Garrelfs, Lisa J Deesker, Cecile Acquaviva, Viola D'Ambrosio, Bodo B Beck

Kidney Int Rep· October 2023

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The retinal phenotype in primary hyperoxaluria type 2 and 3.
Johannes Birtel, Roselie M Diederen, Philipp Herrmann, Sophie Kaspar, Bodo B Beck

Pediatr Nephrol· May 2023

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Germline mutation causes a multisystem chaperonopathy.
Florian Erger, Rajindra P Aryal, Björn Reusch, Yasuyuki Matsumoto, Robert Meyer, Bodo B Beck

Proc Natl Acad Sci U S A· May 2023

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Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Jaap W Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, Bodo B Beck

Nat Rev Nephrol· March 2023

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A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Christoph Heinrich Lindemann, Andrea Wenzel, Florian Erger, Lea Middelmann, Julika Borde, Bodo B Beck

Kidney Int Rep· March 2023

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Modeling of -Based Podocytopathy Using Nephrocytes.
Johanna Odenthal, Sebastian Dittrich, Vivian Ludwig, Tim Merz, Katrin Reitmeier, Bodo B Beck

Kidney Int Rep· February 2023

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Nephropathic cystinosis in Poland: a 40-year retrospective study.
Przemysław Sikora, Ryszard Grenda, Małgorzata Kowalczyk, Beata Kieć-Wilk, Beata Bieniaś, Bodo B Beck

Pol Arch Intern Med· November 2022

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Chronic liver disease and hepatic calcium-oxalate deposition in patients with primary hyperoxaluria type I.
Pia Recker, Bodo Bernhard Beck, Przemyslaw Sikora, Heike Göbel, Markus Josef Kemper

Sci Rep· October 2022

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Consensus draft of the native mouse podocyte-ome.
Arvid D Hutzfeldt, Yifan Tan, Léna Lydie Bonin, Bodo B Beck, Jan Baumbach

Am J Physiol Renal Physiol· August 2022

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Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Lisa J Deesker, Sander F Garrelfs, Giorgia Mandrile, Michiel J S Oosterveld, Pierre Cochat, Bodo B Beck

Kidney Int Rep· July 2022

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