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Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testis.
Reda A, Veys K, Kadam P, Taranta A, Rega LR, Goffredo BM, Camps C, Besouw M, Cyr D, Albersen M, Spiessens C, de Wever L, Hamer R, Janssen MCH, D'Hauwers K, Wetzels A, Monnens L, van den Heuvel L, Goossens E, Levtchenko E. Reda A, et al. J Inherit Metab Dis. 2021 Nov;44(6):1393-1408. doi: 10.1002/jimd.12434. Epub 2021 Sep 24. J Inherit Metab Dis. 2021. PMID: 34494673 Free PMC article.
Urine-Derived Kidney Progenitor Cells in Cystinosis.
Veys K, Berlingerio SP, David D, Bondue T, Held K, Reda A, Broek MVD, Theunis K, Janssen M, Cornelissen E, Vriens J, Diomedi-Camassei F, Gijsbers R, Heuvel LVD, Arcolino FO, Levtchenko E. Veys K, et al. Cells. 2022 Apr 6;11(7):1245. doi: 10.3390/cells11071245. Cells. 2022. PMID: 35406807 Free PMC article.
Pregnancy in cystinosis patients with chronic kidney disease: A European case series.
Servais A, Janssen MCH, Blakey H, Greco M, Lemoine S, Martin-Moreno PL, Game D, Levtchenko E, Lipkin G; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and the ERA working groups on inherited kidney diseases (WGIKD). Servais A, et al. J Inherit Metab Dis. 2022 Sep;45(5):963-968. doi: 10.1002/jimd.12529. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35713960
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. 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
The quality of hereditary haemochromatosis guidelines: a comparative analysis.
Vanclooster A, Cassiman D, Van Steenbergen W, Swinkels DW, Janssen MC, Drenth JP, Aertgeerts B, Wollersheim H. Vanclooster A, et al. Among authors: janssen mc. Clin Res Hepatol Gastroenterol. 2015 Apr;39(2):205-14. doi: 10.1016/j.clinre.2014.09.001. Epub 2014 Oct 23. Clin Res Hepatol Gastroenterol. 2015. PMID: 25441394
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Čechová A, et al. Mol Genet Metab. 2021 Aug;133(4):397-399. doi: 10.1016/j.ymgme.2021.06.003. Epub 2021 Jun 11. Mol Genet Metab. 2021. PMID: 34140212 Free PMC article.
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial.
ten Hoedt AE, de Sonneville LM, Francois B, ter Horst NM, Janssen MC, Rubio-Gozalbo ME, Wijburg FA, Hollak CE, Bosch AM. ten Hoedt AE, et al. Among authors: janssen mc. J Inherit Metab Dis. 2011 Feb;34(1):165-71. doi: 10.1007/s10545-010-9253-9. Epub 2010 Dec 10. J Inherit Metab Dis. 2011. PMID: 21153445 Free PMC article. Clinical Trial.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.
200 results