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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A. Haffner D, et al. Among authors: emma f. Nat Rev Nephrol. 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. Nat Rev Nephrol. 2019. PMID: 31068690 Free PMC article.
Analysis of CTNS gene transcripts in nephropathic cystinosis.
Taranta A, Wilmer MJ, van den Heuvel LP, Bencivenga P, Bellomo F, Levtchenko EN, Emma F. Taranta A, et al. Among authors: emma f. Pediatr Nephrol. 2010 Jul;25(7):1263-7. doi: 10.1007/s00467-010-1502-5. Epub 2010 Mar 30. Pediatr Nephrol. 2010. PMID: 20352457 Free PMC article.
The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.
Wilmer MJ, Emma F, Levtchenko EN. Wilmer MJ, et al. Among authors: emma f. Am J Physiol Renal Physiol. 2010 Nov;299(5):F905-16. doi: 10.1152/ajprenal.00318.2010. Epub 2010 Sep 8. Am J Physiol Renal Physiol. 2010. PMID: 20826575 Free article. Review.
Cysteamine toxicity in patients with cystinosis.
Besouw MT, Bowker R, Dutertre JP, Emma F, Gahl WA, Greco M, Lilien MR, McKiernan J, Nobili F, Schneider JA, Skovby F, van den Heuvel LP, Van't Hoff WG, Levtchenko EN. Besouw MT, et al. Among authors: emma f. J Pediatr. 2011 Dec;159(6):1004-11. doi: 10.1016/j.jpeds.2011.05.057. Epub 2011 Jul 23. J Pediatr. 2011. PMID: 21784456
Distribution of cystinosin-LKG in human tissues.
Taranta A, Petrini S, Citti A, Boldrini R, Corallini S, Bellomo F, Levtchenko E, Emma F. Taranta A, et al. Among authors: emma f. Histochem Cell Biol. 2012 Aug;138(2):351-63. doi: 10.1007/s00418-012-0958-8. Epub 2012 Apr 29. Histochem Cell Biol. 2012. PMID: 22544350
Clinical utility gene card for: cystinosis.
Levtchenko E, van den Heuvel L, Emma F, Antignac C. Levtchenko E, et al. Among authors: emma f. Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.204. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045844 Free PMC article. No abstract available.
Nephropathic cystinosis: an international consensus document.
Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E. Emma F, et al. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4(Suppl 4):iv87-94. doi: 10.1093/ndt/gfu090. Nephrol Dial Transplant. 2014. PMID: 25165189 Free PMC article.
FGF23 blockade coming to clinical practice.
Emma F, Haffner D. Emma F, et al. Kidney Int. 2018 Nov;94(5):846-848. doi: 10.1016/j.kint.2018.08.022. Kidney Int. 2018. PMID: 30348298 Free article. No abstract available.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium; Kleta R, Schaefer F, Bockenhauer D. Lopez-Garcia SC, et al. Among authors: emma f. Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. Nephrol Dial Transplant. 2019. PMID: 30773598
263 results