Zobrazeno 1 - 10
of 25
pro vyhledávání: ''
Autor:
Donald B. Kohn, Claire Booth, Kit L. Shaw, Jinhua Xu-Bayford, Elizabeth Garabedian, Valentina Trevisan, Denise A. Carbonaro-Sarracino, Kajal Soni, Dayna Terrazas, Katie Snell, Alan Ikeda, Diego Leon-Rico, Theodore B. Moore, Karen F. Buckland, Ami J. Shah, Kimberly C. Gilmour, Satiro De Oliveira, Christine Rivat, Gay M. Crooks, Natalia Izotova, John Tse, Stuart Adams, Sally Shupien, Hilory Ricketts, Alejandra Davila, Chilenwa Uzowuru, Amalia Icreverzi, Provaboti Barman, Beatriz Campo Fernandez, Roger P. Hollis, Maritess Coronel, Allen Yu, Krista M. Chun, Christian E. Casas, Ruixue Zhang, Serena Arduini, Frances Lynn, Mahesh Kudari, Andrea Spezzi, Marco Zahn, Rene Heimke, Ivan Labik, Roberta Parrott, Rebecca H. Buckley, Lilith Reeves, Kenneth Cornetta, Robert Sokolic, Michael Hershfield, Manfred Schmidt, Fabio Candotti, Harry L. Malech, Adrian J. Thrasher, H. Bobby Gaspar
Publikováno v:
N Engl J Med
The New England journal of medicine, vol 384, iss 21
The New England journal of medicine, vol 384, iss 21
BACKGROUND: Severe combined immunodeficiency due to adenosine deaminase (ADA) deficiency (ADA-SCID) is a rare and life-threatening primary immunodeficiency. METHODS: We treated 50 patients with ADA-SCID (30 in the United States and 20 in the United K
Autor:
Eryu Wang, Scott C. Weaver, Julio Cisneros, Ivan Abadía, Yamilka Díaz, Dora Estripeaut, Sandra López-Vergès, Hector G. Cedeño, Nestor Sosa, Andrew D. Haddow, Amy Y. Vittor, Davis Beltran, Robert B. Tesh, Alex O. Martínez-Torres, Amelia P.A. Travassos Da Rosa, Jean-Paul Carrera, Elizabeth Castaño, Carmen Báez, Naomi L. Forrester, Humberto Hernandez
Publikováno v:
New England Journal of Medicine. 369:732-744
The eastern equine encephalitis (EEE) and Venezuelan equine encephalitis (VEE) viruses are pathogens that infect humans and horses in the Americas. Outbreaks of neurologic disease in humans and horses were reported in Panama from May through early Au
Autor:
Welton M. Gersony, Annette L. Baker, Robert P. Sundel, Steven D. Colan, Masato Takahashi, L. LuAnn Minich, Gloria L. Klein, Lynn A. Sleeper, Victoria L. Vetter, Jane W. Newburger, Jennifer S. Li, Andrew M. Atz, Brian W. McCrindle, Paul Mitchell
Publikováno v:
New England Journal of Medicine. 356:663-675
Treatment of acute Kawasaki disease with intravenous immune globulin and aspirin reduces the risk of coronary-artery abnormalities and systemic inflammation, but despite intravenous immune globulin therapy, coronary-artery abnormalities develop in so
Autor:
Adelbert A. Roscher, Christian P. Sommerhoff, Matthias Habich, Björn Hoffmann, Hans Demmelmair, Wulf Röschinger, Ania C. Muntau
Publikováno v:
New England Journal of Medicine. 347:2122-2132
Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency, and at least half the affected patients have mild clinical phenotypes. Treatment with a low-phenylalanine diet represents a substantial
Autor:
Rolf M. Zinkernagel
Publikováno v:
New England Journal of Medicine. 345:1331-1335
With this article by Nobel laureate Rolf Zinkernagel, the Immunology series that began in July 2000 comes to an end. Zinkernagel's thesis concerns the influence of a mother's immunologic memory on the effectiveness of childhood vaccination and the su
Autor:
Mitsuhiro Kamisago, Sapna D. Sharma, Steven R. DePalma, Scott Solomon, Pankaj Sharma, Barbara McDonough, Leslie Smoot, Mary P. Mullen, Paul K. Woolf, E. Douglas Wigle, J.G. Seidman, John Jarcho, Lawrence R. Shapiro, Christine E. Seidman
Publikováno v:
New England Journal of Medicine. 343:1688-1696
The molecular basis of idiopathic dilated cardiomyopathy, a primary myocardial disorder that results in reduced contractile function, is largely unknown. Some cases of familial dilated cardiomyopathy are caused by mutations in cardiac cytoskeletal pr
Autor:
Enrico Zammarchi, Nancy J. Hopwood, Barry H. Rich, Charles A. Stanley, Mortimer Poncz, Betty Y.L. Hsu, Alberto Burlina, Yen K. Lieu, Kusiel Perlman, Cheryl R. Greenberg
Publikováno v:
New England Journal of Medicine. 338:1352-1357
A new form of congenital hyperinsulinism characterized by hypoglycemia and hyperammonemia was described recently. We hypothesized that this syndrome of hyperinsulinism and hyperammonemia was caused by excessive activity of glutamate dehydrogenase, wh
Autor:
Matthew C. Cayouette, Patricia Thompson, Lucy E. Side, Kevin Shannon, Edward R. Conner, Michael C. Luce, Brigit R. Taylor
Publikováno v:
New England Journal of Medicine. 336:1713-1720
The risk of malignant myeloid disorders in young children with neurofibromatosis type 1 is 200 to 500 times the normal risk. The gene for neurofibromatosis type 1 (NF1) encodes neurofibromin, a protein that negatively regulates signals transduced by
Autor:
Stanley R. Hamilton, Linda M. Hylind, Gloria M. Petersen, Francis M. Giardiello, Rodger D. Parker, Judith A. Bacon, Jill D. Brensinger, Michael C. Luce, Susan V. Booker
Publikováno v:
New England Journal of Medicine. 336:823-827
The use of commercially available tests for genes linked to familial cancer has aroused concern about the impact of these tests on patients. Familial adenomatous polyposis is an autosomal dominant disease caused by a germ-line mutation of the adenoma
Publikováno v:
New England Journal of Medicine. 335:1799-1805
Ten percent of whites are heterozygous for the HLA-linked hemochromatosis mutation. We performed a cross-sectional analysis of 1058 genotyped heterozygotes to define the effects of age and sex on the phenotype.The heterozygous genotype was assigned t