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167 results

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Page 1
Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.
Brunkhorst M, Brunkhorst L, Martens H, Papizh S, Besouw M, Grasemann C, Turan S, Sikora P, Chromek M, Cornelissen E, Fila M, Lilien M, Allgrove J, Neuhaus TJ, Eltan M, Espinosa L, Schnabel D, Gokce I, González-Rodríguez JD, Khandelwal P, Keijzer-Veen MG, Lechner F, Szczepańska M, Zaniew M, Bacchetta J, Emma F, Haffner D. Brunkhorst M, et al. Among authors: schnabel d. Kidney Int. 2024 Oct 24:S0085-2538(24)00727-0. doi: 10.1016/j.kint.2024.08.035. Online ahead of print. Kidney Int. 2024. PMID: 39461557 Free article.
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. Ariceta G, et al. Among authors: schnabel d. Orphanet J Rare Dis. 2023 Sep 27;18(1):304. doi: 10.1186/s13023-023-02882-4. Orphanet J Rare Dis. 2023. PMID: 37752558 Free PMC article.
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis.
M Boot A, Ariceta G, Beck-Nielsen SS, Brandi ML, Briot K, Collantes CL, Giannini S, Haffner D, Keen R, Levtchenko E, Mughal MZ, Makitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Emma F. M Boot A, et al. Among authors: schnabel d. Ther Adv Chronic Dis. 2024 May 18;15:20406223241247643. doi: 10.1177/20406223241247643. eCollection 2024. Ther Adv Chronic Dis. 2024. PMID: 38764445 Free PMC article.
LMS-based continuous pediatric reference values for soluble receptor activator of nuclear factor kappa B ligand (sRANKL) and osteoprotegerin (OPG) in the HARP cohort.
Tietze H, Pott V, Kanzelmeyer N, Memaran N, Baumann U, Mindermann C, Suhlrie A, Drube J, Melk A, Das AM, Schnabel D, Haffner D, Leifheit-Nestler M. Tietze H, et al. Among authors: schnabel d. Osteoporos Int. 2024 Mar;35(3):533-542. doi: 10.1007/s00198-023-06959-5. Epub 2023 Nov 9. Osteoporos Int. 2024. PMID: 37940696 Free PMC article.
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.
Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D. Ewert A, et al. Among authors: schnabel d. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. J Clin Endocrinol Metab. 2023. PMID: 37097907
Health-related quality of life of children with X-linked hypophosphatemia in Germany.
Klein M, Obermaier M, Mutze H, Wilden SM, Rehberg M, Schlingmann KP, Schmidt D, Metzing O, Hübner A, Richter-Unruh A, Kemper MJ, Weitz M, Wühl E, Jorch N, Patzer L, Freiberg C, Heger S, Ziviknjak M, Schnabel D, Haffner D; German Society for Pediatric Nephrology (GPN) and the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED). Klein M, et al. Among authors: schnabel d. Pediatr Nephrol. 2024 Nov;39(11):3221-3231. doi: 10.1007/s00467-024-06427-0. Epub 2024 Jun 25. Pediatr Nephrol. 2024. PMID: 38914781 Free PMC article.
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.
Mughal MZ, Baroncelli GI, de Lucas-Collantes C, Linglart A, Magnolato A, Raimann A, Santos F, Schnabel D, Shaw N, Nilsson O. Mughal MZ, et al. Among authors: schnabel d. Front Endocrinol (Lausanne). 2023 Jan 31;13:1034580. doi: 10.3389/fendo.2022.1034580. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36798486 Free PMC article. Review.
167 results