Verhoeven-Duif NM - Search Results

1

Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood.

Prinsen HC, Holwerda-Loof NE, de Sain-van der Velden MG, Visser G, Verhoeven-Duif NM. Prinsen HC, et al. Clin Biochem. 2013 Sep;46(13-14):1272-5. doi: 10.1016/j.clinbiochem.2013.05.054. Epub 2013 May 29. Clin Biochem. 2013. PMID: 23726812

2

In response to "Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS" by van den Bosch et al.

Albersen M, van der Ham M, Verhoeven-Duif NM, Groenendaal F, de Sain-van der Velden MG. Albersen M, et al. J Inherit Metab Dis. 2012 Jan;35(1):177. doi: 10.1007/s10545-011-9414-5. Epub 2011 Nov 15. J Inherit Metab Dis. 2012. PMID: 22083207 Free PMC article. No abstract available.

3

Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography-tandem mass spectrometry.

van der Ham M, Albersen M, de Koning TJ, Visser G, Middendorp A, Bosma M, Verhoeven-Duif NM, de Sain-van der Velden MG. van der Ham M, et al. Anal Chim Acta. 2012 Jan 27;712:108-14. doi: 10.1016/j.aca.2011.11.018. Epub 2011 Nov 18. Anal Chim Acta. 2012. PMID: 22177072

4

Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants.

Albersen M, Groenendaal F, van der Ham M, de Koning TJ, Bosma M, Visser WF, Visser G, de Sain-van der Velden MG, Verhoeven-Duif NM. Albersen M, et al. Pediatrics. 2012 Jul;130(1):e191-8. doi: 10.1542/peds.2011-3751. Epub 2012 Jun 25. Pediatrics. 2012. PMID: 22732169

5

The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

de Sain-van der Velden MG, Rinaldo P, Elvers B, Henderson M, Walter JH, Prinsen BH, Verhoeven-Duif NM, de Koning TJ, van Hasselt P. de Sain-van der Velden MG, et al. JIMD Rep. 2012;6:95-9. doi: 10.1007/8904_2011_122. Epub 2012 Feb 24. JIMD Rep. 2012. PMID: 23430945 Free PMC article.

6

Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU.

Jans JJ, de Sain-van der Velden MG, van Hasselt PM, van den Hurk DT, Vaz FM, Visser G, Verhoeven-Duif NM. Jans JJ, et al. Mol Genet Metab. 2013 Jun;109(2):121-4. doi: 10.1016/j.ymgme.2013.03.006. Epub 2013 Mar 21. Mol Genet Metab. 2013. PMID: 23562298

7

Differences between acylcarnitine profiles in plasma and bloodspots.

de Sain-van der Velden MG, Diekman EF, Jans JJ, van der Ham M, Prinsen BH, Visser G, Verhoeven-Duif NM. de Sain-van der Velden MG, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):116-21. doi: 10.1016/j.ymgme.2013.04.008. Epub 2013 Apr 13. Mol Genet Metab. 2013. PMID: 23639448

8

Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.

Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM. Bendadi F, et al. J Pediatr. 2014 Feb;164(2):398-401. doi: 10.1016/j.jpeds.2013.10.001. Epub 2013 Nov 14. J Pediatr. 2014. PMID: 24238861 Free article.

9

Expanding the clinical phenotype of COG6 deficiency.

Haijes H, Prinsen HC, Thiel C, Koerner C, Verhoeven-Duif NM, van Hasselt PM. Haijes H, et al. J Med Genet. 2014 Jun;51(6):425. doi: 10.1136/jmedgenet-2014-102329. Epub 2014 Mar 25. J Med Genet. 2014. PMID: 24667119 No abstract available.

10

Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.

de Sain-van der Velden MG, van der Ham M, Verhoeven-Duif NM, Visser G, van Hasselt PM. de Sain-van der Velden MG, et al. J Inherit Metab Dis. 2014 Jul;37(4):651-2. doi: 10.1007/s10545-014-9706-7. Epub 2014 Apr 3. J Inherit Metab Dis. 2014. PMID: 24696407 No abstract available.

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