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Page 1
Management of bone disease in cystinosis: Statement from an international conference.
Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Bechtold S, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J, Haffner D. Hohenfellner K, et al. J Inherit Metab Dis. 2019 Sep;42(5):1019-1029. doi: 10.1002/jimd.12134. Epub 2019 Aug 5. J Inherit Metab Dis. 2019. PMID: 31177550 Free PMC article.
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner K, Elenberg E, Ariceta G, Nesterova G, Soliman NA, Topaloglu R. Hohenfellner K, et al. Cells. 2022 Mar 25;11(7):1109. doi: 10.3390/cells11071109. Cells. 2022. PMID: 35406673 Free PMC article. Review.
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Emma F, Hoff WV, Hohenfellner K, Topaloglu R, Greco M, Ariceta G, Bettini C, Bockenhauer D, Veys K, Pape L, Hulton S, Collin S, Ozaltin F, Servais A, Deschênes G, Novo R, Bertholet-Thomas A, Oh J, Cornelissen E, Janssen M, Haffner D, Ravà L, Antignac C, Devuyst O, Niaudet P, Levtchenko E. Emma F, et al. Among authors: hohenfellner k. Kidney Int. 2021 Nov;100(5):1112-1123. doi: 10.1016/j.kint.2021.06.019. Epub 2021 Jul 6. Kidney Int. 2021. PMID: 34237326
Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients.
Vill K, Müller-Felber W, Landfarth T, Köppl C, Herzig N, Knerr C, Holla H, Steidle G, Harms E, Hohenfellner K; Interdisciplinary Cystinosis Group. Vill K, et al. Among authors: hohenfellner k. J Inherit Metab Dis. 2022 Mar;45(2):183-191. doi: 10.1002/jimd.12464. Epub 2022 Jan 13. J Inherit Metab Dis. 2022. PMID: 34888877
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E. Veys K, et al. Among authors: hohenfellner k. J Inherit Metab Dis. 2023 Jan;46(1):43-54. doi: 10.1002/jimd.12562. Epub 2022 Oct 6. J Inherit Metab Dis. 2023. PMID: 36117148
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities.
Kluck R, Müller S, Jagodzinski C, Hohenfellner K, Büscher A, Kemper MJ, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Kanzelmeyer N, Pavičić L, Haffner D, Zivicnjak M. Kluck R, et al. Among authors: hohenfellner k. J Inherit Metab Dis. 2022 Mar;45(2):192-202. doi: 10.1002/jimd.12473. Epub 2022 Jan 14. J Inherit Metab Dis. 2022. PMID: 34989402
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K. Nießl C, et al. Among authors: hohenfellner k. Mol Genet Metab. 2022 Aug;136(4):268-273. doi: 10.1016/j.ymgme.2022.06.010. Epub 2022 Jul 2. Mol Genet Metab. 2022. PMID: 35835062 Free PMC article.
Bone and Mineral Metabolism in Children with Nephropathic Cystinosis Compared with other CKD Entities.
Ewert A, Leifheit-Nestler M, Hohenfellner K, Büscher A, Kemper MJ, Oh J, Billing H, Thumfart J, Stangl G, Baur AC, Föller M, Feger M, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Zivicnjak M, Haffner D. Ewert A, et al. Among authors: hohenfellner k. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa267. doi: 10.1210/clinem/dgaa267. J Clin Endocrinol Metab. 2020. PMID: 32413117
48 results