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Page 1
Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.
Aldenhoven M, Jones SA, Bonney D, Borrill RE, Coussons M, Mercer J, Bierings MB, Versluys B, van Hasselt PM, Wijburg FA, van der Ploeg AT, Wynn RF, Boelens JJ. Aldenhoven M, et al. Among authors: wijburg fa. Biol Blood Marrow Transplant. 2015 Jun;21(6):1106-9. doi: 10.1016/j.bbmt.2015.02.011. Epub 2015 Feb 20. Biol Blood Marrow Transplant. 2015. PMID: 25708213 Free article.
Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?
Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ. Koelink CJ, et al. Among authors: wijburg fa. Mol Genet Metab. 2006 Dec;89(4):310-5. doi: 10.1016/j.ymgme.2006.07.009. Epub 2006 Sep 27. Mol Genet Metab. 2006. PMID: 17008115
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Aldenhoven M, de Koning TJ, Verheijen FW, Prinsen BH, Wijburg FA, van der Ploeg AT, de Sain-van der Velden MG, Boelens J. Aldenhoven M, et al. Among authors: wijburg fa. Biol Blood Marrow Transplant. 2010 May;16(5):701-4. doi: 10.1016/j.bbmt.2010.01.006. Epub 2010 Jan 21. Biol Blood Marrow Transplant. 2010. PMID: 20096360 Free article.
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M, O'Meara A, Parini R, Rovelli A, Sykora KW, Valayannopoulos V, Vellodi A, Wynn RF, Wijburg FA. de Ru MH, et al. Among authors: wijburg fa. Orphanet J Rare Dis. 2011 Aug 10;6:55. doi: 10.1186/1750-1172-6-55. Orphanet J Rare Dis. 2011. PMID: 21831279 Free PMC article.
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.
Sollie A, Sijmons RH, Lindhout D, van der Ploeg AT, Rubio Gozalbo ME, Smit GP, Verheijen F, Waterham HR, van Weely S, Wijburg FA, Wijburg R, Visser G. Sollie A, et al. Among authors: wijburg r, wijburg fa. Hum Mutat. 2013 Jul;34(7):967-73. doi: 10.1002/humu.22316. Epub 2013 Jun 3. Hum Mutat. 2013. PMID: 23504699
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, Kelly PM, Lampe C, van der Lee JH, Odent T, Sakkers R, Scarpa M, Schafroth MU, Struijs PA, Valayannopoulos V, White KK, Wijburg FA. Langereis EJ, et al. Among authors: wijburg fa. Orphanet J Rare Dis. 2013 Oct 3;8:155. doi: 10.1186/1750-1172-8-155. Orphanet J Rare Dis. 2013. PMID: 24088413 Free PMC article. Review.
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).
de Ruijter J, Broere L, Mulder MF, van der Ploeg AT, Rubio-Gozalbo ME, Wortmann SB, Visser G, Wijburg FA. de Ruijter J, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2014 May;37(3):447-54. doi: 10.1007/s10545-013-9658-3. Epub 2013 Oct 31. J Inherit Metab Dis. 2014. PMID: 24173409
292 results