Abeling NG - Search Results

1

Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency.

van Kuilenburg AB, van Maldegem BT, Abeling NG, Wijburg FA, Duran M. van Kuilenburg AB, et al. Among authors: abeling ng. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1251-5. doi: 10.1080/15257770600894634. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065101

2

Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.

van Kuilenburg AB, Meijer J, Dobritzsch D, Lohkamp B, Ruitenbeek W, Roelofsen J, Abeling NG, Duran M, Buzing C. van Kuilenburg AB, et al. Among authors: abeling ng. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):809-15. doi: 10.1080/15257770802146247. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600544

3

Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.

van Kuilenburg AB, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: abeling ng. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8. doi: 10.1080/15257770600956870. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065070

4

A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency?

van Kuilenburg AB, Stroomer AE, Abeling NG, van Gennip AH. van Kuilenburg AB, et al. Among authors: abeling ng. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1103-6. doi: 10.1080/15257770600894097. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065072

5

3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients.

Verly IRN, van Kuilenburg ABP, Abeling NGGM, Goorden SMI, Fiocco M, Vaz FM, van Noesel MM, Zwaan CM, Kaspers GJL, Merks JHM, Caron HN, Tytgat GAM. Verly IRN, et al. Among authors: abeling nggm. Eur J Cancer. 2018 Feb;90:102-110. doi: 10.1016/j.ejca.2017.11.025. Epub 2017 Dec 21. Eur J Cancer. 2018. PMID: 29274926

6

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. Bikker H, et al. Among authors: abeling ng. Hum Mutat. 2006 Jul;27(7):640-3. doi: 10.1002/humu.20373. Hum Mutat. 2006. PMID: 16752391

7

Fatty acids and homocysteine levels in patients with recurrent depression: an explorative pilot study.

Assies J, Lok A, Bockting CL, Weverling GJ, Lieverse R, Visser I, Abeling NG, Duran M, Schene AH. Assies J, et al. Among authors: abeling ng. Prostaglandins Leukot Essent Fatty Acids. 2004 Apr;70(4):349-56. doi: 10.1016/j.plefa.2003.12.009. Prostaglandins Leukot Essent Fatty Acids. 2004. PMID: 15041026

8

A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

Lee JH, van Kuilenburg AB, Abeling NG, Vasta V, Hahn SH. Lee JH, et al. Among authors: abeling ng. JIMD Rep. 2015;19:117-21. doi: 10.1007/8904_2014_379. Epub 2015 Feb 1. JIMD Rep. 2015. PMID: 25638458 Free PMC article.

9

Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH. Ng BG, et al. Among authors: abeling ng. Mol Genet Metab. 2007 Jun;91(2):201-4. doi: 10.1016/j.ymgme.2007.02.011. Epub 2007 Mar 28. Mol Genet Metab. 2007. PMID: 17395513 Free PMC article.

10

Hyperaminoaciduria identifies patients at risk of developing renal tubular toxicity associated with ifosfamide and platinate containing regimens.

Caron HN, Abeling N, van Gennip A, de Kraker J, Voûte PA. Caron HN, et al. Med Pediatr Oncol. 1992;20(1):42-7. doi: 10.1002/mpo.2950200109. Med Pediatr Oncol. 1992. PMID: 1727210

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