Results 181 to 190 of about 7,368 (202)

Correction of nutrient deficiencies in children with Shwachman–Diamond syndrome

Voprosy detskoj dietologii
Shwachman–Diamond syndrome (SDS) is a rare genetic ribosomopathy caused by impaired hematopoiesis, exocrine pancreatic insufficiency, delayed puberty, and skeletal abnormalities. Objective.
M. Ipatova
semanticscholar   +1 more source

Infections in Patients with Shwachman-Diamond Syndrome

Pediatric Infectious Disease Journal, 2005
Shwachman-Diamond syndrome (OMIM 260400) is a multisystemic disorder characterized by pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and immune dysfunction. Prompted by the case of a 13-year-old girl with Shwachman-Diamond syndrome who presented with pneumonia attributable to Pseudomonas aeruginosa, we review infectious ...
Zachary M, Grinspan, Cheryl A, Pikora
openaire   +2 more sources

Lymphoid Malignancies in patients with Shwachman-Diamond Syndrome.

Blood
This study identified an increased risk of lymphoid malignancy in Shwachman-Diamond syndrome with an observed risk 38-fold higher than expected based on population data. Increased toxicity was observed with standard therapies in patients with SDS.
Helen D Reed, Hyunwoo Do, Edie A. Weller, Marian H. Harris, Christopher R Reilly, Harrison K Tsai, J. Farrar, Bonnie W Lau, L. Pommert, Christopher Gamper, Ian Atkinson, Katherine Coyne, Margret Joos, S. Loveless, Sarah K Steltz, Leah Cheng, M. Malsch, K. Myers, Akiko Shimamura   +18 more
semanticscholar   +1 more source

Mutations in SBDS are associated with Shwachman–Diamond syndrome

Nature Genetics, 2003
G. Boocock, J. Morrison, M. Popovic, Nicole Richards, L. Ellis, P. Durie, J. Rommens   +6 more
semanticscholar   +1 more source

Shwachman-Diamond Syndrome

2018
Kasiani C. Myers, Akiko Shimamura
  +4 more sources

Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth

International journal of hematology
Masafumi Yamaguchi, Yukihiro Sera, Hanae Toga-Yamaguchi, H. Kanegane, Yusuke Iguchi, Kingo Fujimura   +5 more
semanticscholar   +1 more source

Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman–Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT)

Bone Marrow Transplantation, 2020
S. Cesaro, M. Pillon, M. Sauer, F. Smiers, M. Faraci, C. D. de Heredia, R. Wynn, J. Greil, F. Locatelli, P. Veys, A. Uyttebroeck, P. Ljungman, P. Chevalier, M. Ansari, I. Badell, T. Güngör, R. Salim, J. Tischer, C. Tecchio, N. Russell, A. Chybicka, J. Styczyński, G. Kriván, O. Smith, J. Stein, B. Afanasyev, C. Pochon, M. Menconi, P. Bosman, M. Mauro, G. Tridello, R. D. de Latour, C. Dufour   +32 more
semanticscholar   +1 more source

Shwachman-Diamond Syndrome Presenting as Hepatosplenomegaly

Journal of Pediatric Gastroenterology and Nutrition, 1994
M, Wilschanski, E, van der Hoeven, J, Phillips, B, Shuckett, P, Durie   +4 more
openaire   +2 more sources

Shwachman Diamond Syndrome

2009
Alexander K. C. Leung, Cham Pion Kao, Andrew L. Wong, Alexander K. C. Leung, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Bennett Myers, David N. Herrmann, Vikram K. Mahajan, Nand Lal Sharma, Surender Kashyap, C. Ronald Scott, Natalie Gall, Katrin Welt, Karin Scharffetter-Kochanek, Matthew Harries, Tobias Fischer, Ralf Paus, Cornelius F. Boerkoel, Leah I. Elizondo, Thomas Lücke, Markus M. Nöthen, Marcella Rietschel, Undine E. Lang, Sophie Nicole, Bertrand Fontaine, Alexander K. C. Leung, William Lane M. Robson, Thomas Krieg, Julia Weihrauch, Sergio A. Jimenez, Hugo Ten Cate, Itshak Zusman, Pavel Gurevich, Herzl Ben-Hur, Jutta Keller, Jiri Litzman, Yaofeng Zhao, Lennart Hammarstöm, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Marie-Estelle Dupont, Olivier Guilbaud, Hermann-Josef Gröne, Zoran V. Popovic, Mario Mancini, Batya B. Davidovici, Batsheva Marcos, Edith Orion, Ronni Wolf, Jean-Louis Vincent, Giora Z. Feuerstein, James C. Keith, Robert R. Ruffolo, Cord Sunderkötter, M. Murat Naki, Cevahir Tekcan, M. Murat Naki, Cevahir Tekcan, Amy S. Rawls, Daniel C. Link, Carolina Reitzenstein, Jürgen Kopitz, Michael Cantz, Michael Cantz, Johannes Uhl, Jürgen Kopitz, John-John B. Schnog, Victor E. A. Gerdes, Bärbel Schütte, Samuel J. Arbes, Darryl C. Zeldin, Alessandra Baumer, Hans-Peter Zenner, Brandy J. Harvey, Jyh-Yeuan Lee, Ina L. Urbatsch, Jan Rémi, Soheyl Noachtar, Alexander K. C. Leung, Sarah H. Elsea, Santhosh Girirajan, Chee-Keong Toh, Cord Sunderkötter, Rebecca Schüle, Ludger Schöls, Niels Borregaard, Jack B. Cowland, John-John B. Schnog, Victor E. A. Gerdes, Alexander K. C. Leung, Laura E. Mitchell, Analee J. Etheredge, Denise S. Hill, Richard H. Finnell, Meinhard Schiller, Dorothee Nashan, Cord Sunderkötter, Stefan Reuter, David Geneviève, Valérie Cormier-Daire, Jozef Gécz, Ravi Savarirayan, Yves Le Loir, Michel Gautier, Cord Sunderkötter, Jean-Michel Rozet, Josseline Kaplan, Katarzyna Lukasiuk, Asla Pitkänen, Stephan Haas, Sören Siegmund, Manfred V. Singer, Henryk Dancygier, Mark Oette, Vicente Andrés, Rainer Wessely, Alexander K. C. Leung, Deborah P. Merke, Alexander K. C. Leung, Kam-Lun Ellis Hon, Jutta Engel, Hans-Michael Meinck, Amei Ludwig, Hartmut Hengel, John-John B. Schnog, Victor E. A. Gerdes, Giora Z. Feuerstein, Xinkang Wang, Ivor L. Gerber, Eric Sibley, Akihiro Takatsu, Brigitta Bondy, Daniel Markovich, Ting-Ting Huang, Charles J. Epstein, Hilmar Prange   +150 more
openaire   +1 more source

Shwachman-Diamond Syndrome Presenting as Hypoglycemia

Clinical Pediatrics, 2008
Lindsey A, Albrecht, Sandra W, Gorges, Dennis M, Styne, Andrew A, Bremer   +3 more
openaire   +2 more sources