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Showing 91 - 105 of 160 results
  • Selden N, Guillaume D, Steiner R, Huhn S. Cellular therapy for childhood neurodegenerative disease. Part II: clinical trial design and implementation Neurosurg Focus. 2008 Mar;24(3-4):E22.
  • DeBarber A, Lutjohann D, Merkens L, Steiner R. Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol. ANALYTICAL BIOCHEMISTRY. 2008 Oct;38(1):151-3.
    PubMed ID: 18555788
  • Kruer M, Steiner R. The role of evidence-based medicine and clinical trials in rare genetic disorders. CLINICAL GENETICS. 2008 Sep;74(3):197-207.
    PubMed ID: 18657147
  • Potter N, Lazarus J, Johnson J, Steiner R, Shriberg L. Correlates of language impairment in children with galactosaemia. JOURNAL OF INHERITED METABOLIC DISEASE. 2008 Aug;31(4):524-32.
    PubMed ID: 18649009
  • Whitley CB, Barranger J, Eng C, Davidson BL, Grabowski G, Muenzer J, Pastores GM, Patel S, Shapiro E, Steiner R, Walkley S, Wedehase B, Wilcox W. Lysosomal Disease Network's "WORLD Symposium 2008" MOLECULAR GENETICS AND METABOLISM. 2008 Feb;93(2):S3-5.
  • Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles E, Miranda M, Wraith J, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood J, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu Z, Swiedler S, Decker C, MPS VI Study Group. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. MOLECULAR GENETICS AND METABOLISM. 2008 Aug;94(4):469-75.
    PubMed ID: 18502162
  • Jenkins K, Merkens L, Tubb M, Myatt L, Davidson W, Steiner R, Woollett L. Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome. MOLECULAR GENETICS AND METABOLISM. 2008 Jun;94(2):240-7.
    PubMed ID: 18346920
  • Phillipi C, Remmington T, Steiner R. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database of Systematic Reviews. 2008 Oct;(4):CD005088.
    PubMed ID: 18843680
  • Buist N, Steiner R. Inborn errors of metabolism.
  • Duell P, Roullet J, Steiner R. Disorders of lipid, lipoprotein and bile acid metabolism.
  • Buist N, Steiner R. Lysosomal storage diseases.
  • Steiner R, Martin L, Hume R. Smith Lemli Opitz syndrome eMedicine from WebMD;/topiclist.htm. 2007;
  • Al-Uzri A, Steiner R. Oculocerebrorenal Dystrophy (Lowe Syndrome) eMedicine from WebMD 2007;
  • Haney E, Huffman L, Bougatsos C, Freeman M, Steiner R, Nelson H. Screening for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. Evidence Review Agency for Healthcare, Research, and Quality. Http:// 2007;
  • Hager E, Tse H, Piganelli J, Gupta M, Baetscher M, Tse T, Pappu A, Steiner R, Hoffmann G, Gibson K. Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. JOURNAL OF INHERITED METABOLIC DISEASE. 2007 Nov;30(6):888-95.
    PubMed ID: 18008182