Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

10 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
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: hogenhout em. Hum Mol Genet. 1998 May;7(5):847-53. doi: 10.1093/hmg/7.5.847. Hum Mol Genet. 1998. PMID: 9536089
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR. Motley AM, et al. Am J Hum Genet. 2002 Mar;70(3):612-24. doi: 10.1086/338998. Epub 2002 Jan 7. Am J Hum Genet. 2002. PMID: 11781871 Free PMC article.
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.
Brites P, Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans HS, Tabak HF, Distel B, Wanders RJ. Brites P, et al. J Inherit Metab Dis. 1998 Jun;21(3):306-8. doi: 10.1023/a:1005301112923. J Inherit Metab Dis. 1998. PMID: 9686382 No abstract available.
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR. Ferdinandusse S, et al. Among authors: hogenhout em. Hum Mutat. 2007 Sep;28(9):904-12. doi: 10.1002/humu.20535. Hum Mutat. 2007. PMID: 17458872
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
Ferdinandusse S, van Grunsven EG, Oostheim W, Denis S, Hogenhout EM, IJlst L, van Roermund CW, Waterham HR, Goldfischer S, Wanders RJ. Ferdinandusse S, et al. Among authors: hogenhout em. Am J Hum Genet. 2002 Jun;70(6):1589-93. doi: 10.1086/340970. Epub 2002 Apr 23. Am J Hum Genet. 2002. PMID: 11992265 Free PMC article.
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ. Jansen GA, et al. Among authors: hogenhout em. Hum Mol Genet. 2000 May 1;9(8):1195-200. doi: 10.1093/hmg/9.8.1195. Hum Mol Genet. 2000. PMID: 10767344
Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation.
Jansen GA, Ofman R, Denis S, Ferdinandusse S, Hogenhout EM, Jakobs C, Wanders RJ. Jansen GA, et al. Among authors: hogenhout em. J Lipid Res. 1999 Dec;40(12):2244-54. J Lipid Res. 1999. PMID: 10588950 Free article.
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ, Distel B. Motley AM, et al. Among authors: hogenhout em. Nat Genet. 1997 Apr;15(4):377-80. doi: 10.1038/ng0497-377. Nat Genet. 1997. PMID: 9090382
Feedback