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Showing 61 - 75 of 160 results
  • Kwon J, Steiner R. "I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. NEUROLOGY. 2011 Aug;77(6):522-3.
    PubMed ID: 21753177
  • Steiner L, Ehrenkranz R, Peterec S, Steiner R, Reyes-Mugica M, Gallagher P. Perinatal onset mevalonate kinase deficiency. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY. 2011 Jul;14(4):301-6.
    PubMed ID: 21425920
  • McDonald A, Steiner R, Kuehl K, Turbeville S. Clinical utility of endurance measures for evaluation of treatment in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr Rehabil Med. 2010;3(2):119-27.
    PubMed ID: 21791839
  • Decker C, Yu Z, 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, Swiedler S, Conrad S, Harmatz P. Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med. 2010;3(2):89-100.
    PubMed ID: 20634905
  • McLarren K, Severson T, du Souich C, Stockton D, Kratz L, Cunningham D, Hendson G, Morin R, Wu D, Paul J, An J, Nelson T, Chou A, DeBarber A, Merkens L, Michaud JL, Waters P, Yin J, McGillivray B, Demos M, Rouleau G, Grzeschik K, Smith R, Tarpey P, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen M, Herman G, Zhao Y, Moore R, Kelley RI, Jones S, Steiner R, Raymond F, Marra M, Boerkoel C. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. AMERICAN JOURNAL OF HUMAN GENETICS. 2010 Dec;87(6):905-14.
    PubMed ID: 21129721
  • Lin D, Steiner R, Merkens L, Pappu A, Connor W. The effects of sterol structure upon sterol esterification. ATHEROSCLEROSIS. 2010 Jan;208(1):155-60.
    PubMed ID: 19679306
  • DeBarber A, Connor W, Pappu A, Merkens L, Steiner R. ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis. CLINICA CHIMICA ACTA. 2010 Jan;411(1-2):43-8.
    PubMed ID: 19808031
  • Mendelsohn N, Harmatz P, Bodamer O, Burton B, Giugliani R, Jones S, Lampe C, Malm G, Steiner R, Parini R, Hunter Outcome Survey Investigators. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. GENETICS IN MEDICINE. 2010 Dec;12(12):816-22.
    PubMed ID: 21045710
  • Harmatz P, Yu Z, 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, Swiedler S, Hardy K, Berger K, Decker C. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. JOURNAL OF INHERITED METABOLIC DISEASE. 2010 Feb;33(1):51-60.
    PubMed ID: 20140523
  • Patel S, Steiner R. In Memoriam: William E. Connor (1921-2009). JOURNAL OF LIPID RESEARCH. 2010 Apr;51(4):679-81.
    PubMed ID: 20936768
  • Burton B, Guffon N, Roberts J, van der Ploeg A, Jones S, HOS Investigators, Steiner R. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey. MOLECULAR GENETICS AND METABOLISM. 2010 Oct;101(2-3):123-9.
    PubMed ID: 20638311
  • White D, Connor L, Nardos B, Shimony J, Archer R, Snyder A, Moinuddin A, Grange D, Steiner R, McKinstry R. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. MOLECULAR GENETICS AND METABOLISM. 2010;99(Suppl 1):S41-6.
    PubMed ID: 20123469
  • Cupler E, Steiner R, Wasserstein M, Fenton C. Glycogen-Storage Disease Type V eMedicine from WebMD www.emedicine.medscape.com/article/946577-overview. 2009 Oct;
  • Basel D, Steiner R. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. GENETICS IN MEDICINE. 2009 Jun;11(6):375-85.
    PubMed ID: 19533842
  • Steiner R. Commentary on: "Newborn screening for Krabbe Disease: the New York state model" and "the long-term outcomes of presymptomatic infants transplanted for Krabbe disease. A report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York". GENETICS IN MEDICINE. 2009 Jun;11(6):411-3.
    PubMed ID: 19436215