van Rijt WJ - Search Results

1

Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism.

van Rijt WJ, Schielen PCJI, Özer Y, Bijsterveld K, van der Sluijs FH, Derks TGJ, Heiner-Fokkema MR. van Rijt WJ, et al. Int J Neonatal Screen. 2020 Nov 2;6(4):83. doi: 10.3390/ijns6040083. Int J Neonatal Screen. 2020. PMID: 33147805 Free PMC article.

2

Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.

Van Rijt WJ, Heiner-Fokkema MR, du Marchie Sarvaas GJ, Waterham HR, Blokpoel RG, van Spronsen FJ, Derks TG. Van Rijt WJ, et al. Pediatrics. 2014 Oct;134(4):e1224-8. doi: 10.1542/peds.2013-4254. Epub 2014 Sep 22. Pediatrics. 2014. PMID: 25246622

3

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

van Rijt WJ, Koolhaas GD, Bekhof J, Heiner Fokkema MR, de Koning TJ, Visser G, Schielen PC, van Spronsen FJ, Derks TG. van Rijt WJ, et al. Neonatology. 2016;109(4):297-302. doi: 10.1159/000443874. Epub 2016 Feb 24. Neonatology. 2016. PMID: 26907928 Free article. Review.

4

Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available.

van Rijt WJ, Jager EA, van Spronsen FJ, de Koning T, Heiner-Fokkema MR, Derks TG. van Rijt WJ, et al. Genet Med. 2016 Dec;18(12):1322-1323. doi: 10.1038/gim.2016.149. Epub 2016 Sep 22. Genet Med. 2016. PMID: 27657689 Free article. No abstract available.

5

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.

van Eunen K, Volker-Touw CM, Gerding A, Bleeker A, Wolters JC, van Rijt WJ, Martines AM, Niezen-Koning KE, Heiner RM, Permentier H, Groen AK, Reijngoud DJ, Derks TG, Bakker BM. van Eunen K, et al. Among authors: van rijt wj. BMC Biol. 2016 Dec 7;14(1):107. doi: 10.1186/s12915-016-0327-5. BMC Biol. 2016. PMID: 27927213 Free PMC article.

6

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

van Rijt WJ, Ferdinandusse S, Giannopoulos P, Ruiter JPN, de Boer L, Bosch AM, Huidekoper HH, Rubio-Gozalbo ME, Visser G, Williams M, Wanders RJA, Derks TGJ. van Rijt WJ, et al. J Inherit Metab Dis. 2019 Sep;42(5):878-889. doi: 10.1002/jimd.12147. Epub 2019 Jul 17. J Inherit Metab Dis. 2019. PMID: 31268564

7

Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.

van Rijt WJ, van der Ende RM, Volker-Touw CML, van Spronsen F, Derks TGJ, Heiner-Fokkema MR. van Rijt WJ, et al. Mol Genet Metab. 2019 Aug;127(4):327-335. doi: 10.1016/j.ymgme.2019.06.007. Epub 2019 Jun 28. Mol Genet Metab. 2019. PMID: 31279622

8

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.

9

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.

van Rijt WJ, Van Hove JLK, Vaz FM, Havinga R, Allersma DP, Zijp TR, Bedoyan JK, Heiner-Fokkema MR, Reijngoud DJ, Geraghty MT, Wanders RJA, Oosterveer MH, Derks TGJ. van Rijt WJ, et al. J Inherit Metab Dis. 2021 Jul;44(4):926-938. doi: 10.1002/jimd.12365. Epub 2021 Feb 15. J Inherit Metab Dis. 2021. PMID: 33543789 Free PMC article.

10

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.

Dijkstra AM, de Blaauw P, van Rijt WJ, Renting H, Maatman RGHJ, van Spronsen FJ, Maase RE, Schielen PCJI, Derks TGJ, Heiner-Fokkema MR. Dijkstra AM, et al. Among authors: van rijt wj. Int J Neonatal Screen. 2023 Jun 21;9(3):34. doi: 10.3390/ijns9030034. Int J Neonatal Screen. 2023. PMID: 37489487 Free PMC article.

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