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Hunter’s syndrome
1996 Hunter’s syndrome is an example of a defect in the metabolism of the complex sugars — the mucopolysaccharides. There are a number of syndromes in this group, and in each there is lack of a specific enzyme which controls the metabolism of these nutrients (Other syndromes include Hurler’s syndrome, Morquio’s syndrome and San Filippo syndrome.) Around one openaire +1 more sourceMultidisciplinary Management of Hunter Syndrome
Pediatrics, 2009 Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies seen in Hunter syndrome.MUENZER J, BECK M, ENG CM, ESCOLAR ML, GIUGLIANI R, GUFFON NH, HARMATZ P, KAMIN W, KAMPMANN C, KOSEOGLU ST, LINK B, MARTIN RA, MOLTER DW, ROJAS MVM, OGILVIE JW, PARINI R, RAMASWAMI U, SCARPA, MAURIZIO, SCHWARTZ IV, WOOD RE, WRAITH E. +20 moreopenaire +3 more sourcesCarrier detection in Hunter syndrome
American Journal of Medical Genetics, 1983 AbstractWe have studied the carrier state of the Hunter syndrome using a series of obligate carriers, females at high genetics risk, and normal control women. Specific odds of a female being a carrier of Hunter syndrome were based on serum levels of iduronate 2‐sulphate sulphatase activity.I M, Archer, I D, Young, D W, Rees, A, Oladimeji, F S, Wusteman, P S, Harper +5 moreopenaire +2 more sourcesCerebral infarction in Hunter syndrome
Journal of Clinical Neuroscience, 2006 Hunter syndrome, or mucopolysaccharidosis type II, is an X-linked recessive disorder resulting from iduronate sulfatase deficiency. Typical manifestations include short stature, mental retardation, hydrocephalus, macroglossia and cardiac valvulopathy.John, Neely, Jeffrey, Carpenter, Wesley, Hsu, Lori, Jordan, Lucas, Restrepo +4 moreopenaire +2 more sourcesThe Hurler and Hunter syndromes
The American Journal of Medicine, 1969 Abstract Since the demonstration that acid mucopolysaccharides accumulate in tissue and urines of patients with the Hurler and Hunter syndromes, other mucopolysaccharidoses have been described. Some lipid storage diseases have also been shown to have an increase in acid mucopolysaccharide with the lipid material stored.A, Dorfman, R, Matalonopenaire +2 more sourcesHunters syndrom og hørenedsættelse
Ugeskrift for Læger, 2010 A 30 month-old boy with delayed language development was referred to the Department of Audiology in Aarhus. At the time of referral he had had 19 cases of acute otitis media and had been tubulated four times. Furthermore, the boy had not developed according to age in several respects: his motor functions and language were delayed, and he made audible ...Kiaer, Eva Kirkegaard, Møller, Troels Reinholdt, Wetke, Randi +2 moreopenaire +2 more sourcesHunter Syndrome
2009 Dieter Metze, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, Seda Sancak, Ralf Paschke, Susan Kupka, Stefan K. Plontke, Hans-Peter Zenner, Susan Kupka, Gohar Azhar, Jeanne Y. Wei, Y. James Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, Philipp M. Lepper, Alexander K. C. Leung, Johannes G. Bode, Johannes G. Bode, Clifford E. Kashtan, Klaus Schümann, Günter Weiss, Christine Skerka, Christoph Licht, Peter F. Zipfel, Hugo ten Cate, Hugo ten Cate, Hugo ten Cate, Mark Oette, Dieter Häussinger, Isabelle L. Ruel, Patrick Couture, Benoît Lamarche, Sören V. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Dieter Häussinger, Andreas Erhardt, Andreas Erhardt, Frank Lammert, Johann Lorenzen, Hubert E. Blum, Darius Moradpour, Ralf Kubitz, Georg Merker, Dieter Häussinger, Matthias Wettstein, Matthias Wettstein, Mónica Guevara, Pere Ginès, Hugo Ten Cate, Alexander K. C. Leung, Ulrich Heininger, Markus Pfister, Hans-Peter Zenner, Marcus Schmitt, Arend F. L. Schinkel, Don Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Ralf Kubitz, Georg H. Merker, Dieter Häussinger, Percy Chiu, Richard S. Legro, William L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, Arne W. J. H. Dielis, Hugo ten Cate, S. Harvey Mudd, Christian Simon, Oliver Schildgen, Suncanica Ljubin Sternak, Gordana Mlinaric-Galinovic, Eggert Stockfleth, Ingo Nindl, Inga Zerr, Mathias Bähr, Nicole Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, Alexander K. C. Leung, Shoichi Katsuragi, Bodo Grimbacher, Cristina Woellner, Steven Holland, Christian A. Koch, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. John Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick TS Ma, Lucia K Ma, Alexander K. C Leung, Angelika F. Hahn, Mallikarjuna Nallegowda, Upinderpal Singh, Mangajji R. Umapathi, Rakesh Kumar, Hugo ten Cate, Hugo ten Cate, Raffaele Badolato, Benjamin Glaser, Ruth Schreiber, Daniel Landau, Keiya Tada, Yoichi Matsubara, Goo Taeg Oh, Carla Kallen, Joel Michels Topf, Patrick Murray, S. Harvey Mudd, Jaime Tejedor, Mallikarjuna Nallegowda, Upinderpal Singh, Rakesh Kumar, Manish Kumar Varshney, Mallikarjuna Nallegowda, Upinderpal Singh, Rakesh Kumar, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, Haruo Shintaku, Hiroshi Ichinose, Henry J. Mankin, Christian A. Koch, Gabriel I. Uwaifo, Bettina C. Reulecke, Jonas Denecke, Werner Heppt, Annette Cryer, Rade Tomic, Jesse Roman, Jan Rémi, Soheyl Noachtar, Miki Nagase, Toshiro Fujita, Angel Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Balakrishna Poduval, Saurabh Chatterjee, Hulya Iliksu Gozu, Markus Eszlinger, Rifat Bircan, Ralf Paschke, Hulya Iliksu Gozu, Julia Lüblinghoff, Rifat Bircan, Ralf Paschke, Hulya Iliksu Gozu, Julia Lüblighoff, Rifat Bircan, Roland Pfäffle, Ralf Paschke, Shui-Ping Zhao, Hui-Jun Ye, Jens Mogensen, Rejin Kebudi, Sezer Saglam, Michael A. Becker, John R. Asplin, Keiya Tada, Yoichi Matsubara, Robert W. Gotshall, Christian A. Koch, Hubert Scharnagl, Winfried März, John A. Sayer, Simon H. Pearce, James J. Paparello, Philip J. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Alexander K. C. Leung +199 moreopenaire +1 more source
