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Showing 76 - 90 of 160 results
  • Merkens L, Wassif C, Healy K, Pappu A, DeBarber A, Penfield J, Lindsay R, Roullet J, Porter F, Steiner R. Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. GENETICS IN MEDICINE. 2009 May;11(5):359-64.
    PubMed ID: 19452638
  • West M, Nicholls K, Mehta A, Clarke J, Steiner R, Beck M, Barshop B, Rhead W, Mensah R, Ries M, Schiffmann R. Agalsidase alfa and kidney dysfunction in Fabry disease. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. 2009 May;20(5):1132-9.
    PubMed ID: 19357250
  • Jones S, Almassy Z, Beck M, Burt K, Clarke J, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin S, Malm G, Ramaswami U, Tincheva R, Wraith J, HOS Investigators, Steiner R. Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). JOURNAL OF INHERITED METABOLIC DISEASE. 2009 Aug;32(4):534-43.
    PubMed ID: 19597960
  • Merkens L, Jordan J, Penfield J, Lutjohann D, Connor W, Steiner R. Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. JOURNAL OF PEDIATRICS. 2009 Apr;154(4):557-561.e1.
    PubMed ID: 19101685
  • Whitley CB, Barranger J, Eng C, Davidson B, Grabowski G, Kohler B, Muenzer J, Murray G, Pastores GM, Patel S, Shapiro E, Steiner R, Walkley S, Wedehase B, Wilcox W. Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. MOLECULAR GENETICS AND METABOLISM. 2009 Feb;96(2):S3-5.
    PubMed ID: 19083251
  • Araujo G, Christ S, Steiner R, Grange D, Nardos B, McKinstry R, White D. Response monitoring in children with phenylketonuria. NEUROPSYCHOLOGY. 2009 Jan;23(1):130-4.
    PubMed ID: 19210041
  • Steiner R. Newborn Screening for Krabbe Disease: the New York State Model PEDIATRIC NEUROLOGY. 2009 Apr;40(4):253-255.
  • Chan Y, Merkens L, Connor W, Roullet J, Penfield J, Jordan J, Steiner R, Jones P. Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. PEDIATRIC RESEARCH. 2009 Jun;65(6):681-5.
    PubMed ID: 19430384
  • Chinsky J, Steiner R. Inborn Errors of Metabolism.
  • Burchett M, Hanna C, Steiner R. Endocrine and Metabolic Diseases.
  • Enns G, Steiner R, Cowan T. Lysosomal Disorders.
  • Reeser JC, Austin DM, Jaros LM, Mukesh BNanjan, McCarty CA. Investigating perceived Institutional Review Board quality and function using the IRB researcher assessment tool. J Empir Res Hum Res Ethics. 2008 Mar;3(3):25-34.
    PubMed ID: 19385780
  • Moore T, Steiner R. Metachromatic Leukodystrophy eMedicine from WebMD www.emedicine.com/ped/topiclist.htm. 2008;
  • Steiner R, Baker P. Cerebrotendinous Xanthomatosis eMedicine from WebMD www.emedicine.com/ped/topic1418820.htm. 2008 Nov;
  • Guillaume D, Huhn S, Selden N, Steiner R. Cellular therapy for childhood neurodegenerative disease. Part I: rationale and preclinical studies Neurosurg Focus. 2008 Mar;24(3-4):E21.