de Sain-van der Velden MGM - Search Results

1

Beneficial Effect of BH₄ Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

de Sain-van der Velden MGM, Kuper WFE, Kuijper MA, van Kats LAT, Prinsen HCMT, Balemans ACJ, Visser G, van Gassen KLI, van Hasselt PM. de Sain-van der Velden MGM, et al. JIMD Rep. 2018;42:99-103. doi: 10.1007/8904_2017_86. Epub 2018 Jan 30. JIMD Rep. 2018. PMID: 29380259 Free PMC article.

2

Yield of additional metabolic studies in neurodevelopmental disorders.

Engbers HM, Berger R, van Hasselt P, de Koning T, de Sain-van der Velden MG, Kroes HY, Visser G. Engbers HM, et al. Ann Neurol. 2008 Aug;64(2):212-7. doi: 10.1002/ana.21435. Ann Neurol. 2008. PMID: 18570304

3

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.

de Sain-van der Velden MG, Verrips A, Prinsen BH, de Barse M, Berger R, Visser G. de Sain-van der Velden MG, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S387-93. doi: 10.1007/s10545-008-0963-1. Epub 2008 Oct 24. J Inherit Metab Dis. 2008. PMID: 18949577

4

[Extensive neonatal heel injection screening for metabolic diseases in the Netherlands].

Visser G, van Spronsen FJ, de Sain-van der Velden MG, Blom HJ, Wijburg FA. Visser G, et al. Ned Tijdschr Geneeskd. 2009 May 2;153(18):848-53. Ned Tijdschr Geneeskd. 2009. PMID: 19475862 Dutch. No abstract available.

5

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.

Albersen M, Bonthuis M, de Roos NM, van den Hurk DA, Carbasius Weber E, Hendriks MM, de Sain-van der Velden MG, de Koning TJ, Visser G. Albersen M, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S283-8. doi: 10.1007/s10545-010-9149-8. Epub 2010 Jun 24. J Inherit Metab Dis. 2010. PMID: 20574715 Free PMC article.

6

Metabolic profiles in children during fasting.

van Veen MR, van Hasselt PM, de Sain-van der Velden MG, Verhoeven N, Hofstede FC, de Koning TJ, Visser G. van Veen MR, et al. Pediatrics. 2011 Apr;127(4):e1021-7. doi: 10.1542/peds.2010-1706. Epub 2011 Mar 21. Pediatrics. 2011. PMID: 21422093

7

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

8

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

9

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.

10

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

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