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Peroxisome biogenesis disorders.
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Steinberg SJ, et al. Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. doi: 10.1016/j.bbamcr.2006.09.010. Epub 2006 Sep 14. Biochim Biophys Acta. 2006. PMID: 17055079 Free article. Review.
Investigational methods for peroxisomal disorders.
Steinberg S, Jones R, Tiffany C, Moser A. Steinberg S, et al. Curr Protoc Hum Genet. 2008 Jul;Chapter 17:Unit 17.6. doi: 10.1002/0471142905.hg1706s58. Curr Protoc Hum Genet. 2008. PMID: 18633975
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Braverman NE, et al. Among authors: steinberg sj. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26750748 Free PMC article. Review.
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.
Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ. Hiebler S, et al. Among authors: steinberg sj. Mol Genet Metab. 2014 Apr;111(4):522-532. doi: 10.1016/j.ymgme.2014.01.008. Epub 2014 Jan 23. Mol Genet Metab. 2014. PMID: 24503136 Free PMC article.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR. Falkenberg KD, et al. Among authors: steinberg sj. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.
63 results