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Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
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: derichs u. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. J Clin Endocrinol Metab. 2023. PMID: 37097907
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Hägele P, et al. Lancet Haematol. 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. Lancet Haematol. 2024. PMID: 38302222
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD.
Burgmaier K, Kilian S, Arbeiter K, Atmis B, Büscher A, Derichs U, Dursun I, Duzova A, Eid LA, Galiano M, Gessner M, Gokce I, Haeffner K, Hooman N, Jankauskiene A, Körber F, Longo G, Massella L, Mekahli D, Miloševski-Lomić G, Nalcacioglu H, Rus R, Shroff R, Stabouli S, Weber LT, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Dötsch J, Schaefer F, Liebau MC; ARegPKD Consortium. Burgmaier K, et al. Among authors: derichs u. Sci Rep. 2021 Nov 4;11(1):21677. doi: 10.1038/s41598-021-00523-z. Sci Rep. 2021. PMID: 34737334 Free PMC article.
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity.
Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Perelygina L, et al. Among authors: derichs u. Front Immunol. 2021 Dec 20;12:796065. doi: 10.3389/fimmu.2021.796065. eCollection 2021. Front Immunol. 2021. PMID: 35003119 Free PMC article.
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. J Pediatr. 2018 Aug;199:22-28.e6. doi: 10.1016/j.jpeds.2018.03.052. Epub 2018 May 9. J Pediatr. 2018. PMID: 29753540
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).
Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, Gokce I, König J, Kowalewska C, Massella L, Mastrangelo A, Mekahli D, Pape L, Patzer L, Potemkina A, Schalk G, Schild R, Shroff R, Szczepanska M, Taranta-Janusz K, Tkaczyk M, Weber LT, Wühl E, Wurm D, Wygoda S, Zagozdzon I, Dötsch J, Oh J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Sci Rep. 2020 Sep 29;10(1):16025. doi: 10.1038/s41598-020-71956-1. Sci Rep. 2020. PMID: 32994492 Free PMC article.