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Showing 121 - 135 of 160 results
  • Budden S, Dorsey H, Steiner R. Clinical profile of a male with Rett syndrome. Brain Dev. 2005 Nov;27(Suppl 1):S69-S71.
    PubMed ID: 16182490
  • Harmatz P, Kramer WG, Hopwood J, Simon J, Butensky E, Swiedler S, Mucopolysaccharidosis VI Study Group, Steiner R. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl. 2005 Mar;94(447):61-8; discussion 57.
    PubMed ID: 15895715
  • Steiner R, Pepin M, Byers P. Osteogenesis Imperfecta Gene Reviews mttp://www.genetests.org. 2005;
  • Steiner R. Evidence based medicine in inborn errors of metabolism: is there any and how to find it. American Journal of Medical Genetics Part A. 2005 Apr;134A(2):192-7.
    PubMed ID: 15690407
  • Heike C, Cunningham M, Steiner R, Wenkert D, Hornung R, Gruss J, Gannon F, McAlister W, Mumm S, Whyte MP. Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? American Journal of Medical Genetics Part A. 2005 Dec;139A(2):67-77.
    PubMed ID: 16222671
  • Correa-Cerro L, Wassif C, Waye J, Krakowiak P, Cozma D, Dobson N, Levin S, Anadiotis G, Steiner R, Krajewska-Walasek M, Nowaczyk M, Porter F. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. JOURNAL OF MEDICAL GENETICS. 2005 Apr;42(4):350-7.
    PubMed ID: 15805162
  • Lin D, Steiner R, Flavell D, Connor W. Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. PEDIATRIC RESEARCH. 2005 Jun;57(6):765-70.
    PubMed ID: 15774833
  • Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles E, Miranda M, Yu Z, Swiedler S, Hopwood J, MPS VI Study Group, Steiner R. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. PEDIATRICS. 2005 Jun;115(6):e681-9.
    PubMed ID: 15930196
  • Steiner R, Reeder J. Pharmacologic treatment for improving bone density in people with osteogenesis imperfecta. (Protocol). Cochrane Database of Systematic Reviews. 2005;(1):Art. No CD005088.
  • Enns G, Steiner R. Diagnosis and Treatment of Children with Suspected Metabolic Disease.
  • Enns G, Steiner R. Lysosomal Storage Disorders.
  • Burmester JK, Suarez BK, Lin J, Jin CH, Miller RD, Zhang KQi, Salzman SA, Reding DJ, Catalona WJ. Analysis of candidate genes for prostate cancer. Hum Hered. 2004 Dec;57(4):172-178.
    PubMed ID: 15583422
  • Cross DS, Reding DJ, Salzman SA, Zhang KQi, Catalona WJ, Burke JM, Burmester JK. Expression and initial promoter characterization of PCAN1 in retinal tissue and prostate cell lines. Med Oncol. 2004 Aug;21(2):145-153.
    PubMed ID: 15299187
  • Wicklow B, Ivanovich J, Plews M, Salo T, Noetzel M, Lueder G, Cartegni L, Kaback M, Sandhoff K, Steiner R, Triggs-Raine B. Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. American Journal of Medical Genetics Part A. 2004 Jun;127A(2):158-66.
    PubMed ID: 15108204
  • Lalovic A, Merkens L, Russell L, Arsenault-Lapierre G, Nowaczyk M, Porter F, Steiner R, Turecki G. Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. AMERICAN JOURNAL OF PSYCHIATRY. 2004 Nov;161(11):2123-6.
    PubMed ID: 15514417