Verhoeven-Duif NM - Search Results

1

Identification of human D lactate dehydrogenase deficiency.

Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.

2

Fatal cerebral edema associated with serine deficiency in CSF.

Keularts IM, Leroy PL, Rubio-Gozalbo EM, Spaapen LJ, Weber B, Dorland B, de Koning TJ, Verhoeven-Duif NM. Keularts IM, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S181-5. doi: 10.1007/s10545-010-9067-9. Epub 2010 Mar 19. J Inherit Metab Dis. 2010. PMID: 20300853 Free PMC article.

3

A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids.

Visser WF, Verhoeven-Duif NM, Ophoff R, Bakker S, Klomp LW, Berger R, de Koning TJ. Visser WF, et al. J Chromatogr A. 2011 Oct 7;1218(40):7130-6. doi: 10.1016/j.chroma.2011.07.087. Epub 2011 Aug 3. J Chromatogr A. 2011. PMID: 21890145

4

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

5

Identification of a human trans-3-hydroxy-L-proline dehydratase, the first characterized member of a novel family of proline racemase-like enzymes.

Visser WF, Verhoeven-Duif NM, de Koning TJ. Visser WF, et al. J Biol Chem. 2012 Jun 22;287(26):21654-62. doi: 10.1074/jbc.M112.363218. Epub 2012 Apr 23. J Biol Chem. 2012. PMID: 22528483 Free PMC article.

6

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

7

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Veiga-da-Cunha M, Verhoeven-Duif NM, de Koning TJ, Duran M, Dorland B, Van Schaftingen E. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2013 Nov;36(6):961-6. doi: 10.1007/s10545-012-9568-9. Epub 2012 Dec 14. J Inherit Metab Dis. 2013. PMID: 23242558

8

The intestine plays a substantial role in human vitamin B6 metabolism: a Caco-2 cell model.

Albersen M, Bosma M, Knoers NV, de Ruiter BH, Diekman EF, de Ruijter J, Visser WF, de Koning TJ, Verhoeven-Duif NM. Albersen M, et al. PLoS One. 2013;8(1):e54113. doi: 10.1371/journal.pone.0054113. Epub 2013 Jan 14. PLoS One. 2013. PMID: 23342087 Free PMC article.

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

An update on serine deficiency disorders.

van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ. van der Crabben SN, et al. J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6. J Inherit Metab Dis. 2013. PMID: 23463425

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