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Showing 46 - 60 of 160 results
  • Janos A, Grange D, Steiner R, White D. Processing speed and executive abilities in children with phenylketonuria. NEUROPSYCHOLOGY. 2012 Nov;26(6):735-43.
    PubMed ID: 22866986
  • Cox T, Amato D, Hollak C, Luzy C, Silkey M, Giorgino R, Steiner R, Miglustat Maintenance Study Group. Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet Journal of Rare Diseases. 2012 Dec;7 :102.
    PubMed ID: 23270487
  • DeBarber A, Eroglu Y, Merkens L, Pappu A, Steiner R. Smith-Lemli-Opitz syndrome. Expert Rev Mol Med. 2011 Jul;13 :e24.
    PubMed ID: 21777499
  • Monson D, DeBarber A, Bock C, Anadiotis G, Merkens L, Steiner R, Stout A. Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Arch Ophthalmol. 2011 Aug;129(8):1087-8.
    PubMed ID: 21825196
  • DeBarber A, Sandlers Y, Pappu A, Merkens L, Duell P, Lear S, Erickson S, Steiner R. Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 May;879(17-18):1384-92.
    PubMed ID: 21168372
  • Kruer M, Steiner R. Lysosomal Storage Diseases eMedicine from WebMD 2011;
  • Cupler E, Steiner R, Wasserstein M, Fenton C. Genetics of Glycogen-Storage Disease Type V eMedicine from WebMD 2011;
  • Steiner R, Arnold G. Phenylketonuria eMedicine from WebMD 2011;
  • Steiner R. Smith-Lemli-Opitz Syndrome eMedicine from WebMD 2011;
  • Sheehan W, Steiner R, Thurber S, du Souich C. Aberrant Cholesterol and Lipoprotein Levels in Aggressive Male Adolescents. WebmedCentral PSYCHIATRY. 2011;2(10):WMC002346.
  • Banerjee P, Grange D, Steiner R, White D. Executive strategic processing during verbal fluency performance in children with phenylketonuria. CHILD NEUROPSYCHOLOGY. 2011;17(2):105-17.
    PubMed ID: 21140312
  • Pyott S, Schwarze U, Christiansen H, Pepin M, Leistritz D, Dineen R, Harris C, Burton B, Angle B, Kim K, Sussman M, Weis M, Eyre D, Russell D, McCarthy K, Steiner R, Byers P. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. HUMAN MOLECULAR GENETICS. 2011 Apr;20(8):1595-609.
    PubMed ID: 21282188
  • Ward L, Rauch F, Whyte MP, D'Astous J, Gates P, Grogan D, Lester E, McCall R, Pressly TA, Sanders J, Smith P, Steiner R, Sullivan E, Tyerman G, Smith-Wright D, Verbruggen N, Heyden N, Lombardi A, Glorieux F. Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM. 2011 Feb;96(2):355-64.
    PubMed ID: 21106710
  • Dickson P, Pariser A, Groft S, Ishihara R, McNeil D, Tagle D, Griebel D, Kaler S, Mink J, Shapiro E, Bjoraker K, Krivitzky L, Provenzale J, Gropman A, Orchard P, Raymond G, Cohen B, Steiner R, Goldkind S, Nelson R, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. MOLECULAR GENETICS AND METABOLISM. 2011 Mar;102(3):326-38.
    PubMed ID: 21176882
  • Ren G, Jacob R, Kaulin Y, Dimuzio P, Xie Y, Mason R, Tint G, Steiner R, Roullet J, Merkens L, Whitaker-Menezes D, Frank P, Lisanti M, Cox R, Tulenko T. Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. MOLECULAR GENETICS AND METABOLISM. 2011 Nov;104(3):346-55.
    PubMed ID: 21724437