Verheijen FW - Search Results

1

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J. Reuser AJ, et al. Among authors: verheijen fw. Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Mol Genet Metab. 2011. PMID: 21831684 Review.

2

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

Mancini GM, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleijer WJ, Beemer FA, Jennekens FG. Mancini GM, et al. Among authors: verheijen fw. Eur J Pediatr. 1992 Aug;151(8):590-5. doi: 10.1007/BF01957729. Eur J Pediatr. 1992. PMID: 1505579

3

Lysosomal transport disorders.

Mancini GM, Havelaar AC, Verheijen FW. Mancini GM, et al. Among authors: verheijen fw. J Inherit Metab Dis. 2000 May;23(3):278-92. doi: 10.1023/a:1005640214408. J Inherit Metab Dis. 2000. PMID: 10863944 Review.

4

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. Among authors: verheijen fw. 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

5

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T. Shigeto S, et al. Among authors: verheijen fw. Mol Genet Metab. 2011 May;103(1):12-7. doi: 10.1016/j.ymgme.2011.01.006. Epub 2011 Jan 22. Mol Genet Metab. 2011. PMID: 21320792

6

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: verheijen fw. 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.

7

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP. Niño MY, et al. Among authors: verheijen fw. Eur J Hum Genet. 2021 Mar;29(3):434-446. doi: 10.1038/s41431-020-00752-2. Epub 2020 Nov 8. Eur J Hum Genet. 2021. PMID: 33162552 Free PMC article.

8

Sialic acid storage disorders: observations on clinical and biochemical variation.

Mancini GM, Verheijen FW, Beerens CE, Renlund M, Aula P. Mancini GM, et al. Among authors: verheijen fw. Dev Neurosci. 1991;13(4-5):327-30. doi: 10.1159/000112181. Dev Neurosci. 1991. PMID: 1817039 Review.

9

Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.

Havelaar AC, Beerens CE, Mancini GM, Verheijen FW. Havelaar AC, et al. Among authors: verheijen fw. FEBS Lett. 1999 Mar 5;446(1):65-8. doi: 10.1016/s0014-5793(99)00187-8. FEBS Lett. 1999. PMID: 10100616 Free article.

10

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM. de Wit MC, et al. Among authors: verheijen fw. Mol Genet Metab. 2006 Feb;87(2):102-6. doi: 10.1016/j.ymgme.2005.09.009. Epub 2005 Nov 4. Mol Genet Metab. 2006. PMID: 16275149

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

90 results

Search Page