Wanders RJ - Search Results

1

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Chatfield KC, et al. Among authors: wanders rj. Mitochondrion. 2015 Mar;21:1-10. doi: 10.1016/j.mito.2014.12.005. Epub 2015 Jan 6. Mitochondrion. 2015. PMID: 25575635 Free PMC article.

2

Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.

Heikoop JC, van Roermund CW, Just WW, Ofman R, Schutgens RB, Heymans HS, Wanders RJ, Tager JM. Heikoop JC, et al. Among authors: wanders rj. J Clin Invest. 1990 Jul;86(1):126-30. doi: 10.1172/JCI114674. J Clin Invest. 1990. PMID: 2365812 Free PMC article.

3

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. Clin Chim Acta. 1990 Aug 15;189(2):139-44. doi: 10.1016/0009-8981(90)90084-6. Clin Chim Acta. 1990. PMID: 2397596

4

Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta.

Ofman R, Wanders RJ. Ofman R, et al. Among authors: wanders rj. Biochim Biophys Acta. 1994 May 18;1206(1):27-34. doi: 10.1016/0167-4838(94)90068-x. Biochim Biophys Acta. 1994. PMID: 8186247

5

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients.

Wanders RJ, Dekker C, Ofman R, Schutgens RB, Mooijer P. Wanders RJ, et al. J Inherit Metab Dis. 1995;18 Suppl 1:101-12. doi: 10.1007/BF00711433. J Inherit Metab Dis. 1995. PMID: 9053545

6

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.

Wanders RJ, Ofman R, Romeijn GJ, Schutgens RB, Mooijer PA, Dekker C, van den Bosch H. Wanders RJ, et al. J Inherit Metab Dis. 1995;18 Suppl 1:90-100. doi: 10.1007/BF00711432. J Inherit Metab Dis. 1995. PMID: 9053559

7

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ. Jansen GA, et al. Among authors: wanders rj. Nat Genet. 1997 Oct;17(2):190-3. doi: 10.1038/ng1097-190. Nat Genet. 1997. PMID: 9326940

8

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.

Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJ. Ofman R, et al. Among authors: wanders rj. Hum Mol Genet. 1998 May;7(5):847-53. doi: 10.1093/hmg/7.5.847. Hum Mol Genet. 1998. PMID: 9536089

9

Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria.

Ventura FV, Ijlst L, Ruiter J, Ofman R, Costa CG, Jakobs C, Duran M, Tavares de Almeida I, Bieber LL, Wanders RJ. Ventura FV, et al. Among authors: wanders rj. Eur J Biochem. 1998 May 1;253(3):614-8. doi: 10.1046/j.1432-1327.1998.2530614.x. Eur J Biochem. 1998. PMID: 9654057 Free article.

10

Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase.

Vaz FM, van Gool S, Ofman R, Ijlst L, Wanders RJ. Vaz FM, et al. Among authors: wanders rj. Biochem Biophys Res Commun. 1998 Sep 18;250(2):506-10. doi: 10.1006/bbrc.1998.9343. Biochem Biophys Res Commun. 1998. PMID: 9753662

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