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Page 1
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: patzer l. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
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. Among authors: patzer l. 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 Free article.
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, Decramer S; HNF1B variant study group. Buffin-Meyer B, et al. Among authors: patzer l. Kidney Int Rep. 2024 May 16;9(8):2514-2526. doi: 10.1016/j.ekir.2024.05.007. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156164 Free PMC article.
A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months.
Burgmaier K, Kilian S, Arbeiter K, Atmis B, Boyer O, Buescher A, Dursun I, Erger F, Fila M, Galiano M, Gokce I, Haeffner K, Haffner D, Hooman N, Klaus G, König J, Lange-Sperandio B, Marlais M, Massella L, Mekahli D, Miklaszewska M, Miloševski-Lomić G, Obrycki L, Ranchin B, Seitz B, Stabouli S, Tabel Y, Taranta-Janusz K, Weber LT, Weitz M, Wühl E, Yilmaz A, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Kidney Int. 2025 May;107(5):903-915. doi: 10.1016/j.kint.2025.01.023. Epub 2025 Feb 6. Kidney Int. 2025. PMID: 39922379 Free article.
Office Blood Pressure and Obesity in Children with X-Linked Hypophosphatemia.
Böckmann I, Leifheit-Nestler M, Rehberg M, Spartà G, Evers K, Schlingmann KP, Kemper MJ, Richter-Unruh A, Hiort O, Grohmann-Held K, Derichs U, Freiberg C, Weitz M, Dunstheimer D, Schmid E, John-Kroegel U, Metzing O, Heger S, Jorch N, Staude H, Patzer L, Wühl E, Zivicnjak M, Schnabel D, Haffner D; German Society for Pediatric Nephrology (GPN) and the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED). Böckmann I, et al. Among authors: patzer l. Calcif Tissue Int. 2025 Mar 28;116(1):56. doi: 10.1007/s00223-025-01363-z. Calcif Tissue Int. 2025. PMID: 40152980 Free PMC article.
Growth dynamics of transversal body dimensions and proportions, with related clinical determinants in children with X-linked hypophosphatemia treated with phosphate supplements and active vitamin D.
Brieger LC, Przygodda S, Bohlen AV, Rehberg M, Konrad M, Schlingmann KP, Hiort O, Schmidt D, John-Kroegel U, Wuehl E, Kemper MJ, Derichs U, Patzer L, Albers N, Dunstheimer D, Heger S, Grohmann-Held K, Schroeder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Huebner A, Heitmeyer-Pyper A, Sparta G, Partsch CJ, Marx M, Land C, Baus I, Wilkening F, Moeller K, Simic-Schleicher G, Empting S, Metzing O, Wagner V, Holder M, Žebec MS, Schnabel D, Haffner D, Zivicnjak M; on behalf of; German Society for Pediatric Nephrology (GPN); German Society for Pediatric; Adolescent Endocrinology, Diabetology (DGKED). Brieger LC, et al. Among authors: patzer l. Pediatr Nephrol. 2025 Oct;40(10):3187-3200. doi: 10.1007/s00467-025-06841-y. Epub 2025 Jun 10. Pediatr Nephrol. 2025. PMID: 40493262 Free PMC article.
Potential Benefit of Probiotic E. Coli Nissle in Term Neonates.
Olbertz D, Proquitté H, Patzer L, Erler T, Mikolajczak A, Sadowska-Krawczenko I, Wolff C, Radke M. Olbertz D, et al. Among authors: patzer l. Klin Padiatr. 2023 Jul;235(4):213-220. doi: 10.1055/a-1970-4340. Epub 2022 Nov 29. Klin Padiatr. 2023. PMID: 36446590 Free PMC article. Clinical Trial.
55 results