Ruiter J - Search Results

1

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Law LK, Tang NL, Hui J, Fung SL, Ruiter J, Wanders RJ, Fok TF, Lam CW. Law LK, et al. Among authors: ruiter j. Clin Chim Acta. 2009 Jun 27;404(2):95-9. doi: 10.1016/j.cca.2009.02.015. Epub 2009 Mar 3. Clin Chim Acta. 2009. PMID: 19265687

2

Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method.

Wanders RJ, Ruiter J, van Roermund CW, Schutgens RB, Ofman R, Jurriaans S, Tager JM. Wanders RJ, et al. Among authors: ruiter j. Clin Chim Acta. 1990 Aug 15;189(2):139-44. doi: 10.1016/0009-8981(90)90084-6. Clin Chim Acta. 1990. PMID: 2397596

3

Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid beta-oxidation disorders.

Ventura FV, Ruiter JP, Ijlst L, Almeida IT, Wanders RJ. Ventura FV, et al. Among authors: ruiter jp. Biochim Biophys Acta. 1995 Aug 15;1272(1):14-20. doi: 10.1016/0925-4439(95)00064-b. Biochim Biophys Acta. 1995. PMID: 7662716 Free article.

4

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C).

Ijlst L, Ruiter JP, Vreijling J, Wanders RJ. Ijlst L, et al. Among authors: ruiter jp. J Inherit Metab Dis. 1996;19(2):165-8. doi: 10.1007/BF01799420. J Inherit Metab Dis. 1996. PMID: 8739956 No abstract available.

5

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ. IJlst L, et al. Among authors: ruiter jp. J Clin Invest. 1996 Aug 15;98(4):1028-33. doi: 10.1172/JCI118863. J Clin Invest. 1996. PMID: 8770876 Free PMC article.

6

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

IJlst L, Oostheim W, Ruiter JP, Wanders RJ. IJlst L, et al. Among authors: ruiter jp. J Inherit Metab Dis. 1997 Jul;20(3):420-2. doi: 10.1023/a:1005310903004. J Inherit Metab Dis. 1997. PMID: 9266371 No abstract available.

7

Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.

Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP. Niezen-Koning KE, et al. Among authors: ruiter jp. Eur J Pediatr. 1997 Nov;156(11):870-3. doi: 10.1007/s004310050733. Eur J Pediatr. 1997. PMID: 9392403 Review.

8

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

IJlst L, Mandel H, Oostheim W, Ruiter JP, Gutman A, Wanders RJ. IJlst L, et al. Among authors: ruiter jp. J Clin Invest. 1998 Aug 1;102(3):527-31. doi: 10.1172/JCI2927. J Clin Invest. 1998. PMID: 9691089 Free PMC article.

9

Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation.

Tang NL, Hui J, Law LK, To KF, Ruiter JP, IJlst L, Wanders RJ, Ho CS, Fok TF, Yuen PM, Hjelm NM. Tang NL, et al. Among authors: ruiter jp. J Inherit Metab Dis. 1998 Jun;21(4):423-5. doi: 10.1023/a:1005314910623. J Inherit Metab Dis. 1998. PMID: 9700600 No abstract available.

10

2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation.

Wanders RJ, Denis S, Ruiter JP, IJlst L, Dacremont G. Wanders RJ, et al. Among authors: ruiter jp. Biochim Biophys Acta. 1998 Jul 31;1393(1):35-40. doi: 10.1016/s0005-2760(98)00053-8. Biochim Biophys Acta. 1998. PMID: 9714723

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