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Page 1
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Hollak CE, et al. Among authors: groener je. Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30. Mol Genet Metab. 2012. PMID: 22818240
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, Mannens MM, Aerts JM, Hollak CE. Vedder AC, et al. Among authors: groener je. J Inherit Metab Dis. 2007 Feb;30(1):68-78. doi: 10.1007/s10545-006-0484-8. Epub 2007 Jan 5. J Inherit Metab Dis. 2007. PMID: 17206462
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.
Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, Wijburg FA, Kuiper S, Vd Bergh Weerman MA, Groener JE, Poorthuis BJ, Hollak CE, Aerts JM. Rombach SM, et al. Among authors: groener je. Biochim Biophys Acta. 2010 Sep;1802(9):741-8. doi: 10.1016/j.bbadis.2010.05.003. Epub 2010 May 13. Biochim Biophys Acta. 2010. PMID: 20471476 Free article.
98 results