Ofman R - Search Results

1

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ. Loupatty FJ, et al. Among authors: ofman r. Am J Hum Genet. 2007 Jan;80(1):195-9. doi: 10.1086/510725. Epub 2006 Nov 30. Am J Hum Genet. 2007. PMID: 17160907 Free PMC article.

2

Production and characterisation of monoclonal antibodies against native and disassembled human catalase.

Wiemer EA, Ofman R, Middelkoop E, de Boer M, Wanders RJ, Tager JM. Wiemer EA, et al. Among authors: ofman r. J Immunol Methods. 1992 Jul 6;151(1-2):165-75. doi: 10.1016/0022-1759(92)90115-a. J Immunol Methods. 1992. PMID: 1629607

3

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: ofman r. J Clin Invest. 1990 Jul;86(1):126-30. doi: 10.1172/JCI114674. J Clin Invest. 1990. PMID: 2365812 Free PMC article.

4

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

5

Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method.

Schutgens RB, Romeyn GJ, Ofman R, van den Bosch H, Tager JM, Wanders RJ. Schutgens RB, et al. Among authors: ofman r. Biochim Biophys Acta. 1986 Dec 5;879(3):286-91. doi: 10.1016/0005-2760(86)90217-1. Biochim Biophys Acta. 1986. PMID: 3535897

6

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

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

7

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. Among authors: ofman r. J Inherit Metab Dis. 1995;18 Suppl 1:101-12. doi: 10.1007/BF00711433. J Inherit Metab Dis. 1995. PMID: 9053545

8

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. Among authors: ofman r. J Inherit Metab Dis. 1995;18 Suppl 1:90-100. doi: 10.1007/BF00711432. J Inherit Metab Dis. 1995. PMID: 9053559

9

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: ofman r. Nat Genet. 1997 Oct;17(2):190-3. doi: 10.1038/ng1097-190. Nat Genet. 1997. PMID: 9326940

10

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. Hum Mol Genet. 1998 May;7(5):847-53. doi: 10.1093/hmg/7.5.847. Hum Mol Genet. 1998. PMID: 9536089

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