Disorders of Galactose Metabolism

Autor: Gerard T. Berry, Stanton Segal, Richard Gitzelmann

Publikováno v: Inborn Metabolic Diseases ISBN: 9783540287834

Three inborn errors of galactose metabolism are known, one for each step in the Leloir pathway of galactose conversion to glucose. The first, galactokinase deficiency, is discovered either through newborn screening for hypergalactosemia, or by the ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::acc19c9a59d7923edd6d1160adcdd296
https://doi.org/10.1007/978-3-540-28785-8_7

Concluding remarks

Autor: Stanton Segal, Richard Gitzelmann, Beat Steinmann, Susanne Schweitzer, Kurt Ullrich

Publikováno v: European Journal of Pediatrics. 154:S106-S106

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a2e763e34bfebfb2605bff68e8620509
https://doi.org/10.1007/bf02143815

Galactose Metabolism in a Patient with Hereditary Galactokinase Deficiency

Autor: Henry J. Wells, Richard Gitzelmann, Stanton Segal

Publikováno v: European Journal of Clinical Investigation. 4:79-84

The ability of a galactokinase deficient patient to metabolize galactose, galactitol and galactonate was quantitated. In galactokinase deficiency, conversion of galactose to CO2 is minimal. Apparently the defect is extensive, involving all tissues. G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6516da2c2bf48d62303a6fb4ca9e382e
https://doi.org/10.1111/j.1365-2362.1974.tb00376.x

Intestinal β-galactosidase activities in malabsorption syndromes

Autor: Andrea Prader, Zoppi G, Hansjörg Kistler, Beat Hadorn, Richard Gitzelmann

Publikováno v: Gastroenterology. 50:557-561

Summary In homogenates of intestinal mucosa from normal adults and children, and from patients with acquired lactose malabsorption and with malabsorption syndromes characterized by various degrees of mucosal atrophy, s-galactosidase activity was assa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fe0dd468d31202427893db5600150551
https://doi.org/10.1016/s0016-5085(66)80033-1

Contributors

Autor: Robexrt H. Abeles, Hugo Aebi, Erik Änggard, Norman G. Anderson, Walter Appel, M.H. Aprison, Gilbert Ashwell, Swee E. Aw, Uriel Bachrach, Karl-Heinz Bässler, Eugene S. Baginski, Klaus Beaucamp, Günter Bechtler, Hans Ulrich Bergmeyer, Erich Bernt, Hans-Otto Beutler, Rardon D. Bevill, Heidi Birchmeier, Oscar Bodansky, Paul Boulanger, Karl Brand, Myron Brin, David J.H. Brock, John T. Brosnan, David H. Brown, Joseph G. Brown, Theodor Bücher, Hannes Büttner, Giovanni Ceriotti, James F.A. Chase, Alan Coddington, Patricia S. Cohen, Jack M. Cooperman, Rudolf Czok, Stanley Dagley, Katharina von Dahl, Arne Dahlqvist, Karl Decker, Ulrich C. Dubach, Arnold Eberhard, Fujio Egami, Leonard V. Eggleston, Manfred Eggstein, Frank Eisenberg, Hugo Fasold, William H. Fishman, Piero P. Foà, Edith Förster, Georg Forster, Jörg Frei, Ursula Friebe, Lygia W. Fried, Rainer Fried, Herbert C. Friedmann, Wolf-Peter Fritsch, Hans Fritz, Herbert J. Fromm, Ernest F. Gale, Peter Bryan Garland, Karlfried Gawehn, Ulrich Gerlach, Paul A. Giang, Martin Gibbs, Richard Gitzelmann, Guiseppe Giusti, Heinz W. Goedde, Nelson D. Goldberg, L.T. Graham, Marianne Grassi, Elaine Greenberg, Helmut Greiling, Wolfgang Gruber, Gerd Gundlach, Ingeborg Gutmann, Alexander Hagen, Erich Haid, Hans Haindl, Geoffrey Halliwell, Erwin Hansert, Shin Hasegawa, George G. Hazen, Fritz Heinz, Benno Hess, Peter-Uwe Heuckenkamp, Walter Hiby, John G. Hildebrand, Günther Hillmann, Magnus Hjelm, John R. Hobbs, Norman Joseph Hochella, Thomas Höpner, Helmut Hofner, August W. Holldorf, Günter Holz, Helmut Holzer, Bernhard L. Horecker, Koki Horikoshi, Ronald E. Huribert, Joel Hutzier, Kurt J. Isselbacher, Barbara von Jagow-Westermann, William B. Jakoby, Dieter Jaworek, Mary Ellen Jones, Søren Jørgensen, Wolfram Kaiser, Heinrich Kaltwasser, Reinhard Kattermann, Edna B. Kearney, Dietrich Keppler, John King, Bernard Klein, Martin Klingenberg, Siegmar Klose, Helmut R. Klotzsch, Leiv Klungsøyr, Joachim Knappe, Leonard D. Kohn, Friedrich-Wilhelm Koss, Gladys Krakow, Elisabeth Kuhlmann, Ernest Kun, Gerhart Kurz, Jürgen Kusche, Rudolf Lachenicht, Walther Lamprecht, Gunter Lang, Ulrich Langenbeck, Erwin Latzko, Gerhard Laudahn, Franz Leuthardt, Jacob B. Levine, Alfred Linker, Georg Löffler, Georg Wilhelm Löhr, Karin Löschenkohl, Wilfried Lorenz, Oliver H. Lowry, A. Leonard Luhby, Patricia Lund, Frank Lundquist, Feodor Lynen, Hermann Mattenheimer, Heinrich Matthaei, Claus Maurer, Dieter Mayer, Dieter Mecke, Jane Mellanby, Gerhard Michal, Hans Möllering, Gotthilf Näher, Charles W. Nagel, Robert G. Narins, Erwin Negelein, Heinrich G. Netheler, Eric A. Newsholme, Franz Noll, Hans-Dieter Ohlenbusch, Roger Osteux, Peter Otto, Antonius P.M. van Oudheusden, Paul M. Packmann, Janet V. Passonneau, David J. Pearson, Gerhard Pfleiderer, Wolfgang Pilz, Brunhilde Poppendiek, Jack Preiss, Johann Pütter, Jesse C. Rabinowitz, Efraim Racker, Elli Rauscher, Wirnt Rick, Erwin Rimbach, Peter Röschlau, Carmen Louis Rosano, Jean-François Rouayrenc, Bengt Samuelsson, George E. Schaiberger, Peter Scheibe, William Scher, Helmut Schievelbein, Hans-Günter Schlegel, Ella Schmid, Ellen Schmidt, Felix H. Schmidt, Friedrich W. Schmidt, Helmuth Schmidt, Wilhelm Schoner, Josef Schormüller, Gerhard Schreiber, Christian Schütt, Demoy W. Schulz, Morton K. Schwartz, Gertraud Schweitzer, Werner Seubert, Günther Siebert, Abraham L. Siegel, Wolfgang Staib, Dankwart Stamm, Hans-Peter Stegbauer, Philipp Stein, Harald Stork, Harold V. Street, Bernard L. Strehler, Heinrich Südhof, Szasz Gabor, Shigehiko Taniguchi, Ivar Trautschold, Philip K. Tubbs, Johannes Ullrich, P. Roy Vagelos, Carl-Henrie de Verdier, Peter Vögele, Klaus-Dieter Voigt, August Wilhelm Wahlefeld, Kurt Wallenfels, Hans Dierck Waller, Hans Elmar Walter, Klaus Walter, Otto Warburg, Arthur Weissbach, Herwig Weisser, Eugen Werle, H. Whitney Wharton, Hans-Joachim Wieker, Otto Wieland, Roger Jozef Wieme, J. Henry Wilkinson, Dermot H. Williamson, John R. Williamson, Wolfgang Wilmanns, Irene Witt, Hans-Peter Wolf, Peter Wunderwald, Hans Georg Zachau, Bennie Zak, Gottfried Zankl, Joachim Ziegenhorn, Nepomuk Zöllner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::61dd649d066b17f1a26356b0cc4970dc
https://doi.org/10.1016/b978-0-12-091302-2.50005-0