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Showing 136 - 150 of 160 results
  • Acosta P, Yannicelli S, Singh R, Elsas L2nd, Mofidi S, Steiner R. Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. GENETICS IN MEDICINE. 2004 Mar;6(2):96-101.
    PubMed ID: 15017332
  • Moore D, Ye F, Brennan M, Gupta S, Barshop B, Steiner R, Rhead W, Brady R, Hazen S, Schiffmann R. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. JOURNAL OF MAGNETIC RESONANCE IMAGING. 2004 Oct;20(4):674-83.
    PubMed ID: 15390234
  • Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B, Kaplan P, Simon J, Butensky E, Hopwood J. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). JOURNAL OF PEDIATRICS. 2004 May;144(5):574-80.
    PubMed ID: 15126989
  • Sikora D, Ruggiero M, Petit-Kekel K, Merkens L, Connor W, Steiner R. Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. JOURNAL OF PEDIATRICS. 2004 Jun;144(6):783-91.
    PubMed ID: 15192627
  • Banta-Wright S, Steiner R. Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses. JOURNAL OF PERINATAL & NEONATAL NURSING. 2004 Jan;18(1):41-58; quiz 59-60.
    PubMed ID: 15027667
  • Ginat S, Battaile K, Battaile B, Maslen C, Gibson K, Steiner R. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. MOLECULAR GENETICS AND METABOLISM. 2004 Sep;83(1-2):175-83.
    PubMed ID: 15464432
  • Merkens L, Connor W, Linck L, Lin D, Flavell D, Steiner R. Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. PEDIATRIC RESEARCH. 2004 Nov;56(5):726-32.
    PubMed ID: 15319461
  • Zhang KQi, Salzman SA, Reding DJ, Suarez BK, Catalona WJ, Burmester JK. Genetics of prostate cancer. Clin Med Res. 2003 Jan;1(1):21-28.
    PubMed ID: 15931281
  • Harding C, Pillers D, Steiner R, Bottiglieri T, Rosenblatt D, Debley J, Michael Gibson K. Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. J Perinatol. 2003 Jul;23(5):384-6.
    PubMed ID: 12847533
  • Banta-Wright S, Steiner R. Not so Rare: Errors of Metabolism During the Neonatal Period Newborn Infant and Nursing Reviews. 2003;3 :143-155.
  • Bove K, Steiner R. Expanding the limits of the Fryns syndrome. American Journal of Medical Genetics Part A. 2003 Sep;122A(1):89-90.
    PubMed ID: 12949980
  • Robinson S, Morris C, Goldmuntz E, Reller M, Jones M, Steiner R, Maslen C. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. AMERICAN JOURNAL OF HUMAN GENETICS. 2003 Apr;72(4):1047-52.
    PubMed ID: 12632326
  • Acosta P, Yannicelli S, Singh R, Mofidi S, Steiner R, DeVincentis E, Jurecki E, Bernstein L, Gleason S, Chetty M, Rouse B. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. JOURNAL OF THE AMERICAN DIETETIC ASSOCIATION. 2003 Sep;103(9):1167-73.
    PubMed ID: 12963945
  • Wilcox R, Steiner R. Metabolic disease and sudden unexpected death. JOURNAL OF PEDIATRICS. 2003 Mar;142(3):357.
    PubMed ID: 12640390
  • Yannicelli S, Acosta P, Velazquez A, Bock H, Marriage B, Kurczynski T, Miller M, Korson M, Steiner R, Rutledge L, Bernstein L, Chinsky J, Galvin-Parton P, Arnold G. Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. MOLECULAR GENETICS AND METABOLISM. 2003 Sep;80(1-2):181-8.
    PubMed ID: 14567967