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The Hermansky-Pudlak syndrome.
Bulletin de la Societe belge d'ophtalmologie, 1998 The Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism with a haemorrhagic diathesis and the accumulation of ceroid-like material in different tissues. HPS is not an uncommon type of albinism as it was diagnosed in 13.5% (8/59) of our autosomal recessive albinos.A, Brandt, F, Offner, J, Quatacker, J, Phillipe, F, Meire +4 moreopenaire +1 more source[Hermansky-Pudlak syndrome].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 1989 Hermansky-Pudlak syndrome is a hereditary disease with an autosomal recessive mode of inheritance, characterized by the triad of tyrosinase-positive oculocutaneous albinism, a hemorrhagic diathesis resulting from storage pool-deficient platelets, and accumulation of ceroid/lipofuscin-like material in various cells and tissues and in the urine.openaire +1 more sourceHermansky-Pudlak 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
