Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 3
2004 3
2005 1
2006 2
2007 2
2008 2
2009 2
2010 3
2011 2
2012 2
2013 3
2014 2
2015 3
2016 2
2017 1
2018 1
2019 7
2020 5
Text availability
Article attribute
Article type
Publication date

Search Results

43 results
Results by year
Filters applied: . Clear all
Page 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. Among authors: de sain van der velden mgm. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Kok IL, Ferdinandusse S, de Vries M, Derks TGJ, Mulder MF, Williams M, Gozalbo ER, Bosch AM, van den Hurk DT, de Sain-van der Velden MGM, Waterham HR, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: de sain van der velden mgm. J Inherit Metab Dis. 2019 Jan;42(1):159-168. doi: 10.1002/jimd.12037. J Inherit Metab Dis. 2019. PMID: 30740737
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Haijes HA, Prinsen HCMT, de Sain-van der Velden MGM, Verhoeven-Duif NM, van Hasselt PM, Jans JJM. Haijes HA, et al. Among authors: de sain van der velden mgm. Mol Genet Metab Rep. 2019 Dec 27;22:100551. doi: 10.1016/j.ymgmr.2019.100551. eCollection 2020 Mar. Mol Genet Metab Rep. 2019. PMID: 31908951 Free PMC article.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: de sain van der velden mgm. Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9. Mol Genet Metab. 2019. PMID: 31311714
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: de sain van der velden mgm. J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30761551
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.
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.
Haijes HA, Willemsen M, Van der Ham M, Gerrits J, Pras-Raves ML, Prinsen HCMT, Van Hasselt PM, De Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: de sain van der velden mgm. Metabolites. 2019 Jan 11;9(1):12. doi: 10.3390/metabo9010012. Metabolites. 2019. PMID: 30641898 Free PMC article.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Visser G, Clarke K, Ferdinandusse S, de Haan FH, Houtkooper RH, IJlst L, Kok IL, Langeveld M, van der Pol WL, de Sain-van der Velden MGM, Sibeijn-Kuiper A, Takken T, Wanders RJA, van Weeghel M, Wijburg FA, van der Woude LH, Wüst RCI, Cox PJ, Jeneson JAL. Bleeker JC, et al. Among authors: de sain van der velden mgm. J Inherit Metab Dis. 2020 Jul;43(4):787-799. doi: 10.1002/jimd.12217. Epub 2020 Feb 5. J Inherit Metab Dis. 2020. PMID: 31955429 Free PMC article.
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.
Haijes HA, van der Ham M, Gerrits J, van Hasselt PM, Prinsen HCMT, de Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: de sain van der velden mgm. Mol Genet Metab. 2019 May;127(1):51-57. doi: 10.1016/j.ymgme.2019.03.005. Epub 2019 Mar 15. Mol Genet Metab. 2019. PMID: 30926434 Free article.
Vitamin B6 in plasma and cerebrospinal fluid of children.
Albersen M, Bosma M, Jans JJ, Hofstede FC, van Hasselt PM, de Sain-van der Velden MG, Visser G, Verhoeven-Duif NM. Albersen M, et al. Among authors: de sain van der velden mg. PLoS One. 2015 Mar 11;10(3):e0120972. doi: 10.1371/journal.pone.0120972. eCollection 2015. PLoS One. 2015. PMID: 25760040 Free PMC article.
43 results
Jump to page
Feedback