Oemardien LF - Search Results

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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ. van Diggelen OP, et al. Among authors: oemardien lf. J Inherit Metab Dis. 2009 Jun;32(3):416-23. doi: 10.1007/s10545-009-1082-3. Epub 2009 Apr 19. J Inherit Metab Dis. 2009. PMID: 19387865

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

Oemardien LF, Boer AM, Ruijter GJ, van der Ploeg AT, de Klerk JB, Reuser AJ, Verheijen FW. Oemardien LF, et al. Mol Genet Metab. 2011 Jan;102(1):44-8. doi: 10.1016/j.ymgme.2010.09.008. Epub 2010 Sep 26. Mol Genet Metab. 2011. PMID: 20947400

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ. Oussoren E, et al. Among authors: oemardien lf. Mol Genet Metab. 2013 Aug;109(4):377-81. doi: 10.1016/j.ymgme.2013.05.016. Epub 2013 Jun 4. Mol Genet Metab. 2013. PMID: 23786846

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ. van den Bosch J, et al. Among authors: oemardien lf. J Inherit Metab Dis. 2011 Oct;34(5):1069-73. doi: 10.1007/s10545-011-9351-3. Epub 2011 May 27. J Inherit Metab Dis. 2011. PMID: 21617927 Free PMC article.

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