Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Simone Albers"'
Autor:
Simone Albers, Erik Harms, J. Schellscheidt, Jürgen Brämswig, Hans Georg Koch, Johannes Roth, Jörg Ritter, H. J. v. Lengerke, Klaus Schaarschmidt, C. Wieg, Kurt Werner Schmid
Publikováno v:
Monatsschrift Kinderheilkunde. 146:838-842
Wir berichten von einer 4jahrigen Patientin mit einer 18 Monate wahrenden Anamnese von Mudigkeit, Polydipsie, Knochenschmerzen und stagnierendem Langenwachstum. Ein fieberhafter Infekt fuhrte zur akuten Dekompensation unter dem klinischen Bild eines
Autor:
Michael E. Msall, Thomas G. Brewster, Roger B. Eaton, Siegfried M. Pueschel, Edwin W. Naylor, Laurie A. Demmer, Mark S. Korson, Deborah Marsden, Mary G. Ampola, Steve Amato, Harvey L. Levy, Cecilia A. Larson, Vivian E. Shih, Susan E. Waisbren, Robert M. Greenstein, Simone Albers, Margretta R. Seashore
Publikováno v:
Obstetrical & Gynecological Survey. 59:415-417
It is now possible, using tandem mass spectrometry, to screen newborn infants for more than 20 biochemical disorders of genetic origin. Before screening is widely adopted, it will be necessary to document its efficacy andassess the risks, including t
Autor:
Harvey L. Levy, Simone Albers
Publikováno v:
Avery's Diseases of the Newborn ISBN: 9780721693477
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7429d4aa0167443919a62ac313bf5f
https://doi.org/10.1016/b978-072169347-7.50029-9
https://doi.org/10.1016/b978-072169347-7.50029-9
Autor:
Ira Adams-Chapman, Anne M. Ades, Amina Ahmed, Simone Albers, Marilee C. Allen, Maureen Andrew, Stephen A. Back, H. Scott Baldwin, Philip L. Ballard, Roberta A. Ballard, Beverly A. Banks-Randall, Stephen Baumgart, Karen P. Beckerman, Thomas J. Benedetti, Gerard T. Berry, Carol Lynn Berseth, Kathleen E. Bethin, Diana W. Bianchi, Mitchell S. Cairo, Anthony Caldamone, Sudhish Chandra, Ramen Chmait, Ronald I. Clyman, Bernard A. Cohen, Meryl S. Cohen, Mitchell I. Cohen, Robert M. Cohn, F. Sessions Cole, Anthony Corbet, Scott C. Denne, Theresa J. Di Maggio, Eric C. Eichenwald, Jacquelyn R. Evans, Nick Evans, Avroy A. Fanaroff, Donna M. Ferriero, Delbert A. Fisher, Laura Flores-Sarnat, Philippe S. Friedlich, J. William Gaynor, Alfred L. Gest, Tal Geva, Mary Ann E. Gibbons, William M. Gilbert, Bertil E. Glader, Christine A. Gleason, Michael J. Goldberg, William V. Good, Gregory Goodwin, Sameer Gopalani, Carol L. Greene, Brian E. Grottkau, Peter J. Gruber, Jean-Pierre Guignard, Susan Guttentag, Shannon E.G. Hamrick, Thomas N. Hansen, Margaret K. Hostetter, Samuel C. Hughes, Andrew D. Hull, Roy Jedeikin, Sandra E. Juul, Bernard S. Kaplan, Paige Kaplan, Rebecca A. Kazin, Thomas F. Kelly, Stefan Kuhle, Ian A. Laing, Harvey L. Levy, Mignon L. Loh, Scott A. Lorch, Ralph A. Lugo, Geoffrey A. Machin, James R. MacMahon, George A. Macones, Ashima Madan, Bradley S. Marino, Alma Martinez, Kathryn L. Maschoff, Patricia Massicotte, Katherine K. Matthay, William C. Mentzer, Jeffrey D. Merrill, Carol A. Miller, Lesley Mitchell, Alicia A. Moise, Thomas J. Mollen, Timothy P. Monahan, Thomas R. Moore, Louis J. Muglia, Robert M. Nelson, Thomas B. Newman, Eugenia K. Pallotto, Erica S. Pan, Elvira Parravicini, J. Colin Partridge, Dan Poenaru, Brenda B. Poindexter, Richard A. Polin, Daniel H. Polk, DeWayne M. Pursley, Rangasamy Ramanathan, Daniela Ramierez-Schrempp, Joan A. Regan, Elisabeth G. Richard, Richard L. Robertson, Mark A. Rosen, Lewis P. Rubin, Jack Rychik, Sulagna C. Saitta, Pablo J. Sánchez, Harvey B. Sarnat, Richard J. Schanler, Mark S. Scher, Istvan Seri, Elaine C. Siegfried, Gary A. Silverman, Rebecca Simmons, Susan Sniderman, Thomas L. Spray, Charles A. Stanley, David K. Stevenson, Barbara J. Stoll, H. William Taeusch, Peter Tarczy-Hornoch, George A. Taylor, Janet A. Thomas, Tivadar Tulassay, Carmella van de Ven, Betty R. Vohr, Robert M. Ward, Peggy Sue Weintrub, Stephen Welty, Gil Wernovsky, Calvin B. Williams, Linda L. Wright, Alison Z. Young, Elaine H. Zackai, Stephen A. Zderic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c76527e108d69f5007ffa3a683a8168
https://doi.org/10.1016/b978-072169347-7.50001-9
https://doi.org/10.1016/b978-072169347-7.50001-9
Autor:
Simone Albers, Elizabeth Quackenbush, Michael J. Bennett, Georgirene D. Vladutiu, Bryan E. Hainline, David S. Smail
Publikováno v:
The Journal of pediatrics. 141(5)
We describe a lethal neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency with compound heterozygosity for 2 truncation mutations (Q413fs and 109AGC --> GCAGC). A new phenotype for a severe late infantile form of CPT II deficiency w
Autor:
Simone Albers, Harvey L. Levy
Publikováno v:
Annual review of genomics and human genetics. 1
Screening of newborn infants for genetic disease began over 35 years ago as a public health measure to prevent mental retardation in phenylketonuria (PKU). It was so successful that tests for several other genetic disorders were added. We review the
Publikováno v:
Journal of inherited metabolic disease. 24(3)
Autor:
Harvey L. Levy, Simone Albers, Margretta R. Seashore, Mary G. Ampola, James J. Filiano, Laurie A. Demmer, Vivian E. Shih, Thomas G. Brewster, C. L. Ingham, Susan E. Waisbren, Deborah Marsden, Mark S. Korson, Robert M. Greenstein, L. W. Burke, R. C. Schwartz
Publikováno v:
Journal of Inherited Metabolic Disease. 24:303-304
Newborn screening by tandem mass spectrometry (MS-MS), enabling presymptomatic identi¢cation of more than 20 inborn errors of metabolism, is used in several screening programmes throughout the world (Levy and Albers 2000).Most disorders identi¢ed b
Autor:
Ann R. Stark, Elizabeth Quackenbush, Mira Irons, Deborah Marsden, Harvey L. Levy, Simone Albers
Publikováno v:
Pediatrics. 107:e103-e103
The introduction of tandem mass spectrometry to newborn screening has substantially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferase deficiency II detected
Autor:
Simone Albers, Harvey L. Levy
Publikováno v:
Pediatrics. 107:809-809
To the Editor. The American Academy of Pediatrics (AAP) Task Force on Infant Sleep Position and Sudden Infant Death Syndrome (SIDS) has identified a number of risk factors for SIDS, including prone sleeping, SIDS among siblings, infanticide, and card