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1,003 results
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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: wanders rj. 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.
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F. Andresen BS, et al. Among authors: wanders rj. Am J Hum Genet. 2000 Nov;67(5):1095-103. doi: 10.1086/303105. Epub 2000 Sep 29. Am J Hum Genet. 2000. PMID: 11013134 Free PMC article.
Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts.
Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Kondo N, Kinoshita N, Fujiki Y, Tsukamoto T, Osumi T, Imanaka T, Orii T, Beemer F, Mooijer P, Dekker C, Wanders RJ. Shimozawa N, et al. Among authors: wanders rj. Am J Hum Genet. 1998 Dec;63(6):1898-903. doi: 10.1086/302142. Am J Hum Genet. 1998. PMID: 9837841 Free PMC article. No abstract available.
1,003 results